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578 Cards in this Set
- Front
- Back
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Substrates for Glucokinase
|
Glucose + ATP
|
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Products for Glucokinase
|
G6P + ADP
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Inhibitors for Glucokinase
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F6P (causes GKRP binding in nucleus), glucagon
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Activators for Glucokinase
|
glucose (causes GKRP release), insulin
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Tissue Distribution for Glucokinase
|
Liver, Pancreas
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System for Glucokinase
|
Glycolysis
|
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Substrates for Hexokinase
|
Glucose + ATP; Fructose at high conc.; mannose
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Products for Hexokinase
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G6P + ADP
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Inhibitors for Hexokinase
|
G6P (glucagon)
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Activators for Hexokinase
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glucose, insulin
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System for Hexokinase
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Glycolysis
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Substrates for Phosphoglucose isomerase
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G6P
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Products for Phosphoglucose isomerase
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F6P
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Inhibitors for Phosphoglucose isomerase
|
none
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Activators for Phosphoglucose isomerase
|
none
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System for Phosphoglucose isomerase
|
Glycolysis
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Substrates for Phosphofructokinase-1
|
F6P + ATP
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Products for Phosphofructokinase-1
|
Fructose 1,6-bisP + ADP
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Inhibitors for Phosphofructokinase-1
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ATP, citrate
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Activators for Phosphofructokinase-1
|
ADP, Fructose 2,6-bisP
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System for Phosphofructokinase-1
|
Glycolysis
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Substrates for Phosphofructokinase-2
|
F6P + ATP
|
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Products for Phosphofructokinase-2
|
Fructose 2,6-bisP + ADP
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Inhibitors for Phosphofructokinase-2
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Phosphorylation (Glucagon->cAMP)
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Activators for Phosphofructokinase-2
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Dephosphorylation (via insulin)
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System for Phosphofructokinase-2
|
PFK-2 regulation (glycolysis/gluconeogenesis)
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Substrates for Fructose bisphosphatase-2
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Fructose 2,6-bisP
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Products for Fructose bisphosphatase-2
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F6P
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Inhibitors for Fructose bisphosphatase-2
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Dephosphorylation (via insulin)
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Activators for Fructose bisphosphatase-2
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Phosphorylation (Glucagon->cAMP)
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System for Fructose bisphosphatase-2
|
PFK-2 regulation (glycolysis/gluconeogenesis)
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Substrates for Aldolase A
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Fructose 1,6-bisP
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Products for Aldolase A
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DHAP + Glyceraldehyde 3-P
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Inhibitors for Aldolase A
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none
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Activators for Aldolase A
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none
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System for Aldolase A
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Glycolysis
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Substrates for Aldolase B
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F1P
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Products for Aldolase B
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DHAP + Glyceraldehyde
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Inhibitors for Aldolase B
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none
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Activators for Aldolase B
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none
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Tissue Distribution for Aldolase B
|
liver, kidney, small intestine
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System for Aldolase B
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Fructose Metabolism
|
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Substrates for Triose Phosphate Isomerase
|
DHAP
|
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Products for Triose Phosphate Isomerase
|
Glyceraldehyde 3-P
|
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Inhibitors for Triose Phosphate Isomerase
|
none
|
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Activators for Triose Phosphate Isomerase
|
none
|
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System for Triose Phosphate Isomerase
|
Glycolysis
|
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Substrates for Glyceraldehyde 3-phosphate dehydrogenase
|
Glyceraldehyde 3-P + NAD+ + Pi
|
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Products for Glyceraldehyde 3-phosphate dehydrogenase
|
1,3-BPG + NADH + H+
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Inhibitors for Glyceraldehyde 3-phosphate dehydrogenase
|
no NAD+
|
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Activators for Glyceraldehyde 3-phosphate dehydrogenase
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none
|
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System for Glyceraldehyde 3-phosphate dehydrogenase
|
Glycolysis
|
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Substrates for Bisphosphoglycerate Mutase
|
1,3-BPG
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Products for Bisphosphoglycerate Mutase
|
2,3-BPG
|
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Tissue Distribution for Bisphosphoglycerate Mutase
|
blood
|
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System for Bisphosphoglycerate Mutase
|
Glycolysis
|
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Substrates for Phosphoglycerate Kinase
|
1,3-BPG + ADP
|
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Products for Phosphoglycerate Kinase
|
3-Phosphoglycerate + ATP
|
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Inhibitors for Phosphoglycerate Kinase
|
none
|
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Activators for Phosphoglycerate Kinase
|
none
|
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System for Phosphoglycerate Kinase
|
Glycolysis
|
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Substrates for Phosphoglycerate Mutase
|
3-Phosphoglycerate
|
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Products for Phosphoglycerate Mutase
|
2-Phosphogycerate
|
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Inhibitors for Phosphoglycerate Mutase
|
none
|
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Activators for Phosphoglycerate Mutase
|
none
|
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System for Phosphoglycerate Mutase
|
Glycolysis
|
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Substrates for Enolase
|
2-Phosphoglycerate
|
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Products for Enolase
|
PEP + H2O
|
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Inhibitors for Enolase
|
none
|
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Activators for Enolase
|
none
|
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System for Enolase
|
Glycolysis
|
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Substrates for Pyruvate Kinase
|
PEP + ADP
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Products for Pyruvate Kinase
|
Pyruvate + ATP
|
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Inhibitors for Pyruvate Kinase
|
Phosphorylation (Glucagon->cAMP)
|
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Activators for Pyruvate Kinase
|
Fructose 1,6-bisP (liver), Insulin -> Dephosphorylation (phosphoprotein phosphatase)
|
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System for Pyruvate Kinase
|
Glycolysis
|
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Substrates for Lactate Dehydrogenase
|
Pyruvate + NADH + H+
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Products for Lactate Dehydrogenase
|
Lactate + NAD+
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Inhibitors for Lactate Dehydrogenase
|
none
|
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Activators for Lactate Dehydrogenase
|
none
|
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System for Lactate Dehydrogenase
|
Glycolysis
|
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Substrates for Pyruvate Dehydrogenase Complex
|
Pyruvate + CoA + NAD+
|
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Products for Pyruvate Dehydrogenase Complex
|
Acetyl CoA + CO2 + NADH + H+
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Inhibitors for Pyruvate Dehydrogenase Complex
|
Acetyl CoA, NADH, Phosphorylation by cyclic AMP-independent PDH kinase
|
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Activators for Pyruvate Dehydrogenase Complex
|
Dephosphorylation by PDH Phosphatase
|
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System for Pyruvate Dehydrogenase Complex
|
Oxidative Decardoxylation
|
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Coenzyme for Pyruvate Decarboxylase (part of Pyruvate Dehydrogenase Complex)
|
Thiamine Pyrophosphate
|
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Coenzyme for Dihydrolipoyl Transacetylase (part of Pyruvate Dehydrogenase Complex)
|
lipoic acid and CoA
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Inhibitors for Dihydrolipoyl Transacetylase (part of Pyruvate Dehydrogenase Complex)
|
aresenic (via lipoic acid deactivation)
|
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Coenzyme for Dihydrolipoyl Dehydrogenase
|
FAD and NAD+
|
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Inhibitors for cyclic AMP-independent PDH kinase
|
pyruvate
|
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Activators for cyclic AMP-independent PDH kinase
|
none
|
|
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Inhibitors for PDH Phosphatase
|
Ca++
|
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Activators for PDH Phosphatase
|
none
|
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Substrates for Citrate Synthase
|
Acetyl CoA + OAA + H2O
|
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Products for Citrate Synthase
|
Citrate + CoA
|
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Inhibitors for Citrate Synthase
|
Citrate, NADH, succinyl CoA
|
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Activators for Citrate Synthase
|
none
|
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System for Citrate Synthase
|
TCA Cycle
|
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Substrates for Aconitase
|
Citrate
|
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Products for Aconitase
|
Isocitrate
|
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Coenzyme for Aconitase
|
Fe-S
|
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Inhibitors for Aconitase
|
Fluoroacetate/fluorocitrate
|
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Activators for Aconitase
|
none
|
|
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System for Aconitase
|
TCA Cycle
|
|
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Substrates for Isocitrate Dehydrogenase
|
Isocitrate + NAD+
|
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Products for Isocitrate Dehydrogenase
|
alpha-ketoglutarate + CO2 + NADH + H+
|
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Inhibitors for Isocitrate Dehydrogenase
|
ATP, NADH
|
|
|
Activators for Isocitrate Dehydrogenase
|
ADP, Ca++
|
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System for Isocitrate Dehydrogenase
|
TCA Cycle
|
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Substrates for alpha-ketoglutarate dehydrogenase complex
|
alpha-ketoglutarate + CoA + NAD+
|
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Products for alpha-ketoglutarate dehydrogenase complex
|
Succinyl CoA + CO2 + NADH + H+
|
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Coenzyme for alpha-ketoglutarate dehydrogenase complex
|
Thiamine Pyrophosphate, lipoic acid, FAD, NAD+, CoA
|
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Inhibitors for alpha-ketoglutarate dehydrogenase complex
|
ATP, GTP, NADH, succinyl CoA
|
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Activators for alpha-ketoglutarate dehydrogenase complex
|
Ca++
|
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|
System for alpha-ketoglutarate dehydrogenase complex
|
TCA Cycle
|
|
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Substrates for Succinate Thiokinase
|
Succinyl CoA + GDP + Pi
|
|
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Products for Succinate Thiokinase
|
Succinate + GTP + CoA
|
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System for Succinate Thiokinase
|
TCA Cycle
|
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Substrates for Nucleoside Diphosphate Kinase
|
GTP + ADP
|
|
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Products for Nucleoside Diphosphate Kinase
|
GDP + ATP
|
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System for Nucleoside Diphosphate Kinase
|
TCA Cycle
|
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Substrates for Succinate Dehydrogenase
|
Succinate + FAD
|
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Products for Succinate Dehydrogenase
|
Fumerate + FADH2
|
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System for Succinate Dehydrogenase
|
TCA Cycle & Electron Transport
|
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Substrates for Fumerase
|
Fumerate + H2O
|
|
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Products for Fumerase
|
L-Malate
|
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System for Fumerase
|
TCA Cycle
|
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Substrates for Malate Dehydrogenase
|
Malate + NAD+
|
|
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Products for Malate Dehydrogenase
|
OAA + CoA
|
|
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System for Malate Dehydrogenase
|
TCA Cycle, Gluconeogenesis
|
|
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Substrates for Glycerol Kinase
|
Glycerol + Pi
|
|
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Products for Glycerol Kinase
|
Glycerol Phosphate
|
|
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Tissue Distribution for Glycerol Kinase
|
liver
|
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System for Glycerol Kinase
|
Fatty Acid Mobilization
|
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Substrates for Glycerol Phosphate Dehydrogenase
|
Glycerol Phosphate
|
|
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Products for Glycerol Phosphate Dehydrogenase
|
DHAP
|
|
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Substrates for Pyruvate Carboxylase
|
Pyruvate + CO2 + ATP
|
|
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Products for Pyruvate Carboxylase
|
OAA + ADP + Pi
|
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Coenzyme for Pyruvate Carboxylase
|
biotin (bound to epsilon-carbon of lysine aka biocytin)
|
|
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Activators for Pyruvate Carboxylase
|
acetyl CoA
|
|
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Tissue Distribution for Pyruvate Carboxylase
|
liver, kidney (and muscle but not for gluconeogenesis)
|
|
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System for Pyruvate Carboxylase
|
Gluconeogenesis
|
|
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Substrates for PEP-carboxykinase
|
OAA + GTP
|
|
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Products for PEP-carboxykinase
|
PEP + CO2 + GDP + Pi
|
|
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System for PEP-carboxykinase
|
Gluconeogenesis
|
|
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Substrates for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
Fructose 1,6-bisP + H2O
|
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Products for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
F6P + Pi
|
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Inhibitors for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
Fructose 2,6-bisP, AMP
|
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Activators for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
ATP
|
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Tissue Distribution for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
liver, kidney
|
|
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System for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
Gluconeogenesis
|
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Substrates for Glucose 6-phosphatase
|
G6P + H2O
|
|
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Products for Glucose 6-phosphatase
|
D-Glucose + Pi
|
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Tissue Distribution for Glucose 6-phosphatase
|
liver, kidney
|
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System for Glucose 6-phosphatase
|
Gluconeogenesis, Glycogenolysis
|
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Substrates for UDP-glucose pyrophosphorylase
|
UTP + G1P
|
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Products for UDP-glucose pyrophosphorylase
|
UDP-glucose + PPi
|
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System for UDP-glucose pyrophosphorylase
|
Glycogenesis
|
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System for Phosphoglucomutase
|
Glycogenesis, Glycogenolysis
|
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Substrates for Pyrophosphatase
|
PPi + H2O
|
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Products for Pyrophosphatase
|
2Pi
|
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Substrates for Glycogen Synthase
|
glycogen + UDP-glucose
|
|
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Products for Glycogen Synthase
|
(1-> 4) glycogen + UDP
|
|
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Inhibitors for Glycogen Synthase
|
phosphorylation by: glucagon (liver), epinephrine and glucagon (muscle)
|
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Activators for Glycogen Synthase
|
G6P; dephosphorylation via insulin
|
|
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System for Glycogen Synthase
|
Glycogenesis
|
|
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Substrates for Glycogenin
|
UDP-glucose + UDP-glucose
|
|
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Products for Glycogenin
|
glycogen + 2UDP
|
|
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System for Glycogenin
|
Glycogenesis
|
|
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Substrates for branching enzyme
|
glycogen
|
|
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Products for branching enzyme
|
glycogen with a translocated terminal end (6-8 glucoses) to a branched location (1->6)
|
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System for branching enzyme
|
Glycogenesis
|
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Substrates for Glycogen phosphorylase
|
non-branched glycogen
|
|
|
Products for Glycogen phosphorylase
|
limit dextrin + G1P
|
|
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Coenzyme for Glycogen phosphorylase
|
pyridoxal phosphate
|
|
|
Inhibitors for Glycogen phosphorylase
|
Glucose, ATP, G6P, phosphorylation (via glucagon or epinephrine) (liver); G6P, ATP, phosphorylation( via epinephrine only) (Muscle)
|
|
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Activators for Glycogen phosphorylase
|
Ca++, AMP (Muscle only); dephosphorylation via insulin
|
|
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System for Glycogen phosphorylase
|
Glycogenolysis
|
|
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Substrates for debranching enzyme
|
limit dextrin + (1->6) branch
|
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Products for debranching enzyme
|
non-branched glycogen chain (from translocation of the 1->4) chain + free glucose (from the 1->6 branch)
|
|
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System for debranching enzyme
|
Glycogenolysis
|
|
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Substrates for Fructokinase
|
Fructose + ATP
|
|
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Products for Fructokinase
|
F1P + ADP
|
|
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Tissue Distribution for Fructokinase
|
liver, kidney, small intestine
|
|
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System for Fructokinase
|
Fructose Metabolism
|
|
|
Substrates for Phosphomannose Isomerase
|
M6P
|
|
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Products for Phosphomannose Isomerase
|
F6P
|
|
|
System for Phosphomannose Isomerase
|
Fructose Metabolism
|
|
|
Substrates for Aldose Reductase
|
glucose + NADPH + H+
|
|
|
Products for Aldose Reductase
|
sorbitol + NADP+
|
|
|
System for Aldose Reductase
|
Fructose Metabolism
|
|
|
Substrates for Sorbitol Dehydrogenase
|
sorbitol + NAD+
|
|
|
Products for Sorbitol Dehydrogenase
|
fructose + NADH + H+
|
|
|
Tissue Distribution for Sorbitol Dehydrogenase
|
liver, ovaries, seminal vesicles
|
|
|
System for Sorbitol Dehydrogenase
|
Fructose Metabolism
|
|
|
Substrates for Galactokinase
|
galactose + ATP
|
|
|
Products for Galactokinase
|
Gal1P + ADP
|
|
|
System for Galactokinase
|
Galactose Metabolism
|
|
|
Substrates for Galactose 1-phosphate Uridyltransferase
|
Galactose 1-P + UDP-Glucose
|
|
|
Products for Galactose 1-phosphate Uridyltransferase
|
G1P + UDP-Galactose
|
|
|
System for Galactose 1-phosphate Uridyltransferase
|
Galactose Metabolism
|
|
|
Substrates for UDP-Hexose 4-epimerase
|
UDP-galactose
|
|
|
Products for UDP-Hexose 4-epimerase
|
UDP-glucose
|
|
|
System for UDP-Hexose 4-epimerase
|
Galactose Metabolism
|
|
|
Substrates for UDP-galactose:glucose galactosyltransferase
|
UDP-galactose + glucose
|
|
|
Products for UDP-galactose:glucose galactosyltransferase
|
Lactose + UDP
|
|
|
Tissue Distribution for UDP-galactose:glucose galactosyltransferase
|
lactating mammary glands
|
|
|
System for UDP-galactose:glucose galactosyltransferase
|
Lactose Synthesis
|
|
|
Substrates for Beta-D-Galactosyltransferase
|
UDP-galactose
|
|
|
Products for Beta-D-Galactosyltransferase
|
N-acetyl-D-glucosamine
|
|
|
System for Beta-D-Galactosyltransferase
|
N-linked Glycoprotein Synthesis
|
|
|
Substrates for Glucose 6-phosphate Dehydrogenase
|
G6P + NADP+
|
|
|
Products for Glucose 6-phosphate Dehydrogenase
|
6-phosphogluconolactone + NADPH + H+
|
|
|
Inhibitors for Glucose 6-phosphate Dehydrogenase
|
NADPH
|
|
|
Activators for Glucose 6-phosphate Dehydrogenase
|
Insulin
|
|
|
System for Glucose 6-phosphate Dehydrogenase
|
Pentose Phosphate Pathway
|
|
|
Substrates for 6-phosphogluconolactone hydrolase
|
6-phosphogluconolactone + H2O
|
|
|
Products for 6-phosphogluconolactone hydrolase
|
6-phosphogluconate
|
|
|
System for 6-phosphogluconolactone hydrolase
|
Pentose Phosphate Pathway
|
|
|
Substrates for 6-phosphogluconate dehydrogenase
|
6-phosphogluconate + NADP+
|
|
|
Products for 6-phosphogluconate dehydrogenase
|
Ribulose 5-phosphate + CO2 + NADPH + H+
|
|
|
System for 6-phosphogluconate dehydrogenase
|
Pentose Phosphate Pathway
|
|
|
Substrates for Ribose 5-phophate isomerase
|
ribulose 5-P
|
|
|
Products for Ribose 5-phophate isomerase
|
ribose 5-P
|
|
|
Tissue Distribution for Ribose 5-phophate isomerase
|
all cells synthesizing nucleic acids
|
|
|
System for Ribose 5-phophate isomerase
|
Pentose Phosphate Pathway
|
|
|
Substrates for phosphopentose epimerase
|
ribulose 5-P
|
|
|
Products for phosphopentose epimerase
|
xylulose 5-P
|
|
|
System for phosphopentose epimerase
|
Pentose Phosphate Pathway
|
|
|
Substrates for transketolase
|
(1) Xylulose 5 -P + ribose 5-P (2) erythrose 4-P + fructose 6-P
|
|
|
Products for transketolase
|
(1) glyceraldehyde 3-P + sedoheptulose 7-P (2) glyceraldehyde 3-P + xylulose 5-P
|
|
|
Coenzyme for transketolase
|
thiamine pyrophosphate
|
|
|
System for transketolase
|
Pentose Phosphate Pathway
|
|
|
Substrates for transaldolase
|
Glyceraldehyde 3-P + Sedoheptulose 7-P
|
|
|
Products for transaldolase
|
Erythrose 4-P + Fructose 6-P
|
|
|
System for transaldolase
|
Pentose Phosphate Pathway
|
|
|
Substrates for glutathione peroxidase
|
reduced glutathione + H2O2
|
|
|
Products for glutathione peroxidase
|
oxidized glutathione + 2 H20
|
|
|
Cofactor for glutathione peroxidase
|
Selenium
|
|
|
System for glutathione peroxidase
|
Pentose Phosphate Pathway
|
|
|
Substrates for glutathione reductase
|
oxidized glutathione + NADPH + H+
|
|
|
Products for glutathione reductase
|
reduced glutathione + NADP+
|
|
|
System for glutathione reductase
|
Pentose Phosphate Pathway
|
|
|
Substrates for cytochrome P450 monooxygenase
|
steroid + O2 + NADPH + H+
|
|
|
Products for cytochrome P450 monooxygenase
|
seroid-OH + H2O + NADP+
|
|
|
Substrates for NADPH oxidase
|
O2 + NADPH + H+
|
|
|
Products for NADPH oxidase
|
O2 superoxide + NADP+
|
|
|
Tissue Distribution for NADPH oxidase
|
Leukocytes
|
|
|
System for NADPH oxidase
|
Respiratory Burst
|
|
|
Substrates for NO Synthase
|
L-Arginine + NADPH + H+ + O2
|
|
|
Products for NO Synthase
|
NADP+ + NO + L-Citrulline
|
|
|
Coenzyme for NO Synthase
|
FMN, FAD, heme, tetrahydrobiopterin
|
|
|
Substrates for acetyl CoA carboxylase
|
acetyl CoA + CO2 + ATP
|
|
|
Products for acetyl CoA carboxylase
|
malonyl CoA + ADP + Pi
|
|
|
Coenzyme for acetyl CoA carboxylase
|
biotin
|
|
|
Inhibitors for acetyl CoA carboxylase
|
LCFA-CoA, phosphorylation (via glucagon or epinephrine, or AMPK)
|
|
|
Activators for acetyl CoA carboxylase
|
Citrate, dephosphorylation (via insulin)
|
|
|
System for acetyl CoA carboxylase
|
Fatty Acid Synthesis
|
|
|
Substrates for Fatty Acid Synthase
|
Acetyl CoA + 7 Malonyl CoA + 16 NADPH + 16H+
|
|
|
Products for Fatty Acid Synthase
|
Palmitate + 16 NADP+ + 7 CO2 + 7 H2O
|
|
|
Coenzyme for Fatty Acid Synthase
|
4'-phosphopantetheine
|
|
|
System for Fatty Acid Synthase
|
Fatty Acid Synthesis
|
|
|
Substrates for Hormone-sensitive Lipase
|
TAG
|
|
|
Products for Hormone-sensitive Lipase
|
DAG + FA
|
|
|
Inhibitors for Hormone-sensitive Lipase
|
Dephosphorylation (via insulin)
|
|
|
Activators for Hormone-sensitive Lipase
|
Phosphorylation (via epinephrine)
|
|
|
Tissue Distribution for Hormone-sensitive Lipase
|
adipocytes
|
|
|
System for Hormone-sensitive Lipase
|
Fatty Acid Mobilization
|
|
|
Substrates for Carnitine palmitoyl-transferase I
|
Fatty acyl-CoA + carnitine
|
|
|
Products for Carnitine palmitoyl-transferase I
|
Fatty acyl-carnitine + CoA
|
|
|
Inhibitors for Carnitine palmitoyl-transferase I
|
Malonyl CoA
|
|
|
System for Carnitine palmitoyl-transferase I
|
Beta-Oxidation
|
|
|
Substrates for Acyl CoA dehydrogenase (short-, medium-, long, very-long-)
|
Fatty acyl-CoA + FAD
|
|
|
Products for Acyl CoA dehydrogenase (short-, medium-, long, very-long-)
|
Enoyl CoA + FADH2
|
|
|
System for Acyl CoA dehydrogenase (short-, medium-, long, very-long-)
|
Beta-Oxidation
|
|
|
Substrates for Enoyl CoA hydratase
|
Enoyl CoA + H2O
|
|
|
Products for Enoyl CoA hydratase
|
3-Hydroxyacyl CoA
|
|
|
System for Enoyl CoA hydratase
|
Beta-Oxidation
|
|
|
Substrates for 3-Hydroxyacyl CoA dehydrogenase
|
3-Hydroxyacyl CoA + NAD+
|
|
|
Products for 3-Hydroxyacyl CoA dehydrogenase
|
3-Ketoacyl CoA + NADH + H+
|
|
|
System for 3-Hydroxyacyl CoA dehydrogenase
|
Beta-Oxidation
|
|
|
Substrates for beta-ketoacyl-CoA thiolase (thiolase)
|
3-Ketoacyl CoA + CoA
|
|
|
Products for beta-ketoacyl-CoA thiolase (thiolase)
|
Fatty acyl CoA + Acetyl CoA
|
|
|
System for beta-ketoacyl-CoA thiolase (thiolase)
|
Beta-Oxidation, Ketogenesis, Cholesterol Synthesis
|
|
|
Substrates for propionyl CoA carboxylase
|
propionyl CoA + CO2 + ATP
|
|
|
Products for propionyl CoA carboxylase
|
D-methylmalonyl CoA + ADP + Pi
|
|
|
Coenzyme for propionyl CoA carboxylase
|
biotin
|
|
|
System for propionyl CoA carboxylase
|
Beta-Oxidation (odd carbon)
|
|
|
Substrates for Methylmalonyl CoA racemase
|
D-methylmalonyl CoA
|
|
|
Products for Methylmalonyl CoA racemase
|
L-methylmalonyl CoA
|
|
|
System for Methylmalonyl CoA racemase
|
Beta-Oxidation (odd carbon)
|
|
|
Substrates for Methylmalonyl CoA mutase
|
L-methylmalonyl CoA
|
|
|
Products for Methylmalonyl CoA mutase
|
succinyl CoA
|
|
|
Coenzyme for Methylmalonyl CoA mutase
|
vitamin B12 (deoxyadenosyl cobalamin)
|
|
|
System for Methylmalonyl CoA mutase
|
Beta-Oxidation (odd carbon)
|
|
|
Substrates for 3,2-enoyl CoA
|
3-trans fatty acyl CoA
|
|
|
Products for 3,2-enoyl CoA
|
2-trans fatty acyl CoA
|
|
|
Substrates for NADPH-dependent 2,4-dienoyl CoA reductase
|
polyunsaturated fatty acyl CoA
|
|
|
Coenzyme for acyl CoA oxidase
|
FAD
|
|
|
System for acyl CoA oxidase
|
Beta-Oxidation (VLCFA)
|
|
|
Substrates for catalase
|
H2O2
|
|
|
Products for catalase
|
H2O
|
|
|
System for fatty acid alpha-hydroxylase
|
Alpha-Oxidation
|
|
|
Substrates for HMG CoA Synthase
|
Acetoacetyl CoA + Acetyl CoA
|
|
|
Products for HMG CoA Synthase
|
HMG CoA + CoA
|
|
|
Tissue Distribution for HMG CoA Synthase
|
liver (ketogenesis); all tissue (cholesterol synthesis)
|
|
|
System for HMG CoA Synthase
|
Ketogenesis, Cholesterol Synthesis
|
|
|
Substrates for HMG CoA Lyase
|
HMG CoA
|
|
|
Products for HMG CoA Lyase
|
Acetoacetate + Acetyl CoA
|
|
|
Tissue Distribution for HMG CoA Lyase
|
liver
|
|
|
System for HMG CoA Lyase
|
Ketogenesis
|
|
|
Substrates for 3-hydroxybutyrate dehydrongenase
|
Acetoacetate + NADH + H+
|
|
|
Products for 3-hydroxybutyrate dehydrongenase
|
3-hydroxybutyrate + NAD+
|
|
|
Tissue Distribution for 3-hydroxybutyrate dehydrongenase
|
all tissue
|
|
|
System for 3-hydroxybutyrate dehydrongenase
|
Ketogenesis, ketolysis
|
|
|
Tissue Distribution for succinyl CoA:acetoacetate CoA transferase (thiophorase)
|
extrahepatic tissue with mitochondria
|
|
|
System for succinyl CoA:acetoacetate CoA transferase (thiophorase)
|
Ketolysis
|
|
|
Substrates for sulfotransferase
|
galactocerebroside + PAPS
|
|
|
Products for sulfotransferase
|
galactocerebroside 3-phosphate
|
|
|
Coenzyme for sulfotransferase
|
3'-phosphoadenosine-5'-phosphosulfate (PAPS)
|
|
|
Substrates for PGH synthase
|
arachidonic acid
|
|
|
Products for PGH synthase
|
PGH2
|
|
|
Inhibitors for PGH synthase
|
NSAIDS
|
|
|
Activators for PGH synthase
|
cytokines, endotoxin, growth factors, tumor promotors
|
|
|
Tissue Distribution for PGH synthase
|
COX1 (all tissue), COX2 (inflammatory tissue)
|
|
|
Substrates for 5-lipoxygenase
|
arachidonic acid
|
|
|
Products for 5-lipoxygenase
|
5-HPETE
|
|
|
Tissue Distribution for 5-lipoxygenase
|
neutrophils
|
|
|
Substrates for phospholipase A2
|
phospholipid
|
|
|
Products for phospholipase A2
|
lysophospholipid + arachidonic acid
|
|
|
Inhibitors for phospholipase A2
|
corticosteroids
|
|
|
Substrates for HMG reductase
|
HMG CoA + 2 NADPH + 2H+
|
|
|
Products for HMG reductase
|
Mevalonic acid + CoA + 2NADP+
|
|
|
Inhibitors for HMG reductase
|
cholesterol (via SREP-SCAP activation), phosphorylation (via AMPK), glucagon, statins (competitive inhibitor)
|
|
|
Activators for HMG reductase
|
insulin
|
|
|
System for HMG reductase
|
Cholesterol Synthesis
|
|
|
Inhibitors for Cholesterol-7-alpha-hydroxylase
|
cholic acid
|
|
|
Activators for Cholesterol-7-alpha-hydroxylase
|
cholesterol
|
|
|
Tissue Distribution for Cholesterol-7-alpha-hydroxylase
|
liver
|
|
|
Substrates for acyl CoA:cholesterol acyltransferase (ACAT)
|
cholesterol + Fatty Acyl CoA
|
|
|
Products for acyl CoA:cholesterol acyltransferase (ACAT)
|
Cholesterol Ester
|
|
|
Activators for acyl CoA:cholesterol acyltransferase (ACAT)
|
cholesterol
|
|
|
Substrates for phosphatidylcholine:cholesterol acyltransferase (PCAT)
|
phosphatidylcholine + cholesterol
|
|
|
Products for phosphatidylcholine:cholesterol acyltransferase (PCAT)
|
lypophosphatidylcholine + cholesterol ester
|
|
|
Activators for phosphatidylcholine:cholesterol acyltransferase (PCAT)
|
apo A-I
|
|
|
Substrates for lipoprotein lipase
|
TAG
|
|
|
Products for lipoprotein lipase
|
DAG + FA
|
|
|
Activators for lipoprotein lipase
|
apo C-II
|
|
|
Substrates for Cholesterol ester transfer protein
|
HDL CE + VLDL TAG
|
|
|
Products for Cholesterol ester transfer protein
|
HDL TAG + VLDL CE
|
|
|
Substrates for Cholesterol Side-Chain Cleavage Enzyme Complex (desmolase)
|
cholesterol + NADPH + H+ + O2
|
|
|
Products for Cholesterol Side-Chain Cleavage Enzyme Complex (desmolase)
|
pregnenolone + NADP+
|
|
|
Reaction for Glucokinase
|
Glucose + ATP → G6P + ADP
|
|
|
Reaction for Hexokinase
|
Glucose + ATP; Fructose at high conc.; mannose → G6P + ADP
|
|
|
Reaction for Phosphoglucose isomerase
|
G6P → F6P
|
|
|
Reaction for Phosphofructokinase-1
|
F6P + ATP → Fructose 1,6-bisP + ADP
|
|
|
Reaction for Phosphofructokinase-2
|
F6P + ATP → Fructose 2,6-bisP + ADP
|
|
|
Reaction for Fructose bisphosphatase-2
|
Fructose 2,6-bisP → F6P
|
|
|
Reaction for Aldolase A
|
Fructose 1,6-bisP → DHAP + Glyceraldehyde 3-P
|
|
|
Reaction for Aldolase B
|
F1P → DHAP + Glyceraldehyde
|
|
|
Reaction for Triose Phosphate Isomerase
|
DHAP → Glyceraldehyde 3-P
|
|
|
Reaction for Glyceraldehyde 3-phosphate dehydrogenase
|
Glyceraldehyde 3-P + NAD+ + Pi → 1,3-BPG + NADH + H+
|
|
|
Reaction for Bisphosphoglycerate Mutase
|
1,3-BPG → 2,3-BPG
|
|
|
Reaction for Phosphoglycerate Kinase
|
1,3-BPG + ADP → 3-Phosphoglycerate + ATP
|
|
|
Reaction for Phosphoglycerate Mutase
|
3-Phosphoglycerate → 2-Phosphogycerate
|
|
|
Reaction for Enolase
|
2-Phosphoglycerate → PEP + H2O
|
|
|
Reaction for Pyruvate Kinase
|
PEP + ADP → Pyruvate + ATP
|
|
|
Reaction for Lactate Dehydrogenase
|
Pyruvate + NADH + H+ → Lactate + NAD+
|
|
|
Reaction for Pyruvate Dehydrogenase Complex
|
Pyruvate + CoA + NAD+ → Acetyl CoA + CO2 + NADH + H+
|
|
|
Reaction for Citrate Synthase
|
Acetyl CoA + OAA + H2O → Citrate + CoA
|
|
|
Reaction for Aconitase
|
Citrate → Isocitrate
|
|
|
Reaction for Isocitrate Dehydrogenase
|
Isocitrate + NAD+ → alpha-ketoglutarate + CO2 + NADH + H+
|
|
|
Reaction for alpha-ketoglutarate dehydrogenase complex
|
alpha-ketoglutarate + CoA + NAD+ → Succinyl CoA + CO2 + NADH + H+
|
|
|
Reaction for Succinate Thiokinase
|
Succinyl CoA + GDP + Pi → Succinate + GTP + CoA
|
|
|
Reaction for Nucleoside Diphosphate Kinase
|
GTP + ADP → GDP + ATP
|
|
|
Reaction for Succinate Dehydrogenase
|
Succinate + FAD → Fumerate + FADH2
|
|
|
Reaction for Fumerase
|
Fumerate + H2O → L-Malate
|
|
|
Reaction for Malate Dehydrogenase
|
Malate + NAD+ → OAA + CoA
|
|
|
Reaction for Glycerol Kinase
|
Glycerol + Pi → Glycerol Phosphate
|
|
|
Reaction for Glycerol Phosphate Dehydrogenase
|
Glycerol Phosphate → DHAP
|
|
|
Reaction for Pyruvate Carboxylase
|
Pyruvate + CO2 + ATP → OAA + ADP + Pi
|
|
|
Reaction for PEP-carboxykinase
|
OAA + GTP → PEP + CO2 + GDP + Pi
|
|
|
Reaction for Fructose 1,6-bisphosphatase (Fructose bisphosphatase-1)
|
Fructose 1,6-bisP + H2O → F6P + Pi
|
|
|
Reaction for Glucose 6-phosphatase
|
G6P + H2O → D-Glucose + Pi
|
|
|
Reaction for UDP-glucose pyrophosphorylase
|
UTP + G1P → UDP-glucose + PPi
|
|
|
Reaction for Pyrophosphatase
|
PPi + H2O → 2Pi
|
|
|
Reaction for Glycogen Synthase
|
glycogen + UDP-glucose → (1-> 4) glycogen + UDP
|
|
|
Reaction for Glycogenin
|
UDP-glucose + UDP-glucose → glycogen + 2UDP
|
|
|
Reaction for branching enzyme
|
glycogen → glycogen with a translocated terminal end (6-8 glucoses) to a branched location (1->6)
|
|
|
Reaction for Glycogen phosphorylase
|
non-branched glycogen → limit dextrin + G1P
|
|
|
Reaction for debranching enzyme
|
limit dextrin + (1->6) branch → non-branched glycogen chain (from translocation of the 1->4) chain + free glucose (from the 1->6 branch)
|
|
|
Reaction for Fructokinase
|
Fructose + ATP → F1P + ADP
|
|
|
Reaction for Phosphomannose Isomerase
|
M6P → F6P
|
|
|
Reaction for Aldose Reductase
|
glucose + NADPH + H+ → sorbitol + NADP+
|
|
|
Reaction for Sorbitol Dehydrogenase
|
sorbitol + NAD+ → fructose + NADH + H+
|
|
|
Reaction for Galactokinase
|
galactose + ATP → Gal1P + ADP
|
|
|
Reaction for Galactose 1-phosphate Uridyltransferase
|
Galactose 1-P + UDP-Glucose → G1P + UDP-Galactose
|
|
|
Reaction for UDP-Hexose 4-epimerase
|
UDP-galactose → UDP-glucose
|
|
|
Reaction for UDP-galactose:glucose galactosyltransferase
|
UDP-galactose + glucose → Lactose + UDP
|
|
|
Reaction for Beta-D-Galactosyltransferase
|
UDP-galactose → N-acetyl-D-glucosamine
|
|
|
Reaction for Glucose 6-phosphate Dehydrogenase
|
G6P + NADP+ → 6-phosphogluconolactone + NADPH + H+
|
|
|
Reaction for 6-phosphogluconolactone hydrolase
|
6-phosphogluconolactone + H2O → 6-phosphogluconate
|
|
|
Reaction for 6-phosphogluconate dehydrogenase
|
6-phosphogluconate + NADP+ → Ribulose 5-phosphate + CO2 + NADPH + H+
|
|
|
Reaction for Ribose 5-phophate isomerase
|
ribulose 5-P → ribose 5-P
|
|
|
Reaction for phosphopentose epimerase
|
ribulose 5-P → xylulose 5-P
|
|
|
Reaction for transketolase
|
(1) Xylulose 5 -P + ribose 5-P (2) erythrose 4-P + fructose 6-P → (1) glyceraldehyde 3-P + sedoheptulose 7-P (2) glyceraldehyde 3-P + xylulose 5-P
|
|
|
Reaction for transaldolase
|
Glyceraldehyde 3-P + Sedoheptulose 7-P → Erythrose 4-P + Fructose 6-P
|
|
|
Reaction for glutathione peroxidase
|
reduced glutathione + H2O2 → oxidized glutathione + 2 H20
|
|
|
Reaction for glutathione reductase
|
oxidized glutathione + NADPH + H+ → reduced glutathione + NADP+
|
|
|
Reaction for cytochrome P450 monooxygenase
|
steroid + O2 + NADPH + H+ → seroid-OH + H2O + NADP+
|
|
|
Reaction for NADPH oxidase
|
O2 + NADPH + H+ → O2 superoxide + NADP+
|
|
|
Reaction for NO Synthase
|
L-Arginine + NADPH + H+ + O2 → NADP+ + NO + L-Citrulline
|
|
|
Reaction for acetyl CoA carboxylase
|
acetyl CoA + CO2 + ATP → malonyl CoA + ADP + Pi
|
|
|
Reaction for Fatty Acid Synthase
|
Acetyl CoA + 7 Malonyl CoA + 16 NADPH + 16H+ → Palmitate + 16 NADP+ + 7 CO2 + 7 H2O
|
|
|
Reaction for Hormone-sensitive Lipase
|
TAG → DAG + FA
|
|
|
Reaction for Carnitine palmitoyl-transferase I
|
Fatty acyl-CoA + carnitine → Fatty acyl-carnitine + CoA
|
|
|
Reaction for Acyl CoA dehydrogenase (short-, medium-, long, very-long-)
|
Fatty acyl-CoA + FAD → Enoyl CoA + FADH2
|
|
|
Reaction for Enoyl CoA hydratase
|
Enoyl CoA + H2O → 3-Hydroxyacyl CoA
|
|
|
Reaction for 3-Hydroxyacyl CoA dehydrogenase
|
3-Hydroxyacyl CoA + NAD+ → 3-Ketoacyl CoA + NADH + H+
|
|
|
Reaction for beta-ketoacyl-CoA thiolase (thiolase)
|
3-Ketoacyl CoA + CoA → Fatty acyl CoA + Acetyl CoA
|
|
|
Reaction for propionyl CoA carboxylase
|
propionyl CoA + CO2 + ATP → D-methylmalonyl CoA + ADP + Pi
|
|
|
Reaction for Methylmalonyl CoA racemase
|
D-methylmalonyl CoA → L-methylmalonyl CoA
|
|
|
Reaction for Methylmalonyl CoA mutase
|
L-methylmalonyl CoA → succinyl CoA
|
|
|
Reaction for 3,2-enoyl CoA
|
3-trans fatty acyl CoA → 2-trans fatty acyl CoA
|
|
|
Reaction for NADPH-dependent 2,4-dienoyl CoA reductase
|
polyunsaturated fatty acyl CoA →
|
|
|
Reaction for catalase
|
H2O2 → H2O
|
|
|
Reaction for HMG CoA Synthase
|
Acetoacetyl CoA + Acetyl CoA → HMG CoA + CoA
|
|
|
Reaction for HMG CoA Lyase
|
HMG CoA → Acetoacetate + Acetyl CoA
|
|
|
Reaction for 3-hydroxybutyrate dehydrongenase
|
Acetoacetate + NADH + H+ → 3-hydroxybutyrate + NAD+
|
|
|
Reaction for sulfotransferase
|
galactocerebroside + PAPS → galactocerebroside 3-phosphate
|
|
|
Reaction for PGH synthase
|
arachidonic acid → PGH2
|
|
|
Reaction for 5-lipoxygenase
|
arachidonic acid → 5-HPETE
|
|
|
Reaction for phospholipase A2
|
phospholipid → lysophospholipid + arachidonic acid
|
|
|
Reaction for HMG reductase
|
HMG CoA + 2 NADPH + 2H+ → Mevalonic acid + CoA + 2NADP+
|
|
|
Reaction for acyl CoA:cholesterol acyltransferase (ACAT)
|
cholesterol + Fatty Acyl CoA → Cholesterol Ester
|
|
|
Reaction for phosphatidylcholine:cholesterol acyltransferase (PCAT)
|
phosphatidylcholine + cholesterol → lypophosphatidylcholine + cholesterol ester
|
|
|
Reaction for lipoprotein lipase
|
TAG → DAG + FA
|
|
|
Reaction for Cholesterol ester transfer protein
|
HDL CE + VLDL TAG → HDL TAG + VLDL CE
|
|
|
Reaction for Cholesterol Side-Chain Cleavage Enzyme Complex (desmolase)
|
cholesterol + NADPH + H+ + O2 → pregnenolone + NADP+
|
|
|
Compartment for Glycolysis
|
Cytosol
|
|
|
Compartment for Oxidative Decarboxylation of Pyruvate
|
Mitochondrial Matrix
|
|
|
Compartment for Gluconeogenesis
|
Mitochondrial Matrix (Pyruvate -> Malate)Cytosol (Malate -> G6P), and ER (G6P->glucose->GLUT-7)
|
|
|
Compartment for Glycogenolysis
|
Cytosol (glycogen->G6P) then ER (G6P->glucose->GLUT-7 in liver,kidney)
|
|
|
Compartment for Glycogenesis
|
Cytosol
|
|
|
Compartment for Fructose Metabolism
|
Cytosol
|
|
|
Compartment for Galactose Metabolism
|
Cytosol
|
|
|
Compartment for Lactose Synthesis
|
Golgi
|
|
|
Compartment for Glycosaminoglycan Synthesis
|
Golgi
|
|
|
Compartment for Fatty Acid Synthesis
|
Cytosol
|
|
|
Compartment for Beta-Oxidation
|
Mitochondria
|
|
|
Rate-Limiting Step for Beta-Oxidation
|
Carnitine shuttle
|
|
|
Compartment for Beta-Oxidation of VLCFA
|
Peroxisome
|
|
|
Compartment for Ketogenesis
|
Mitochondrial Matrix
|
|
|
Compartment for Ketolysis
|
Mitochondrial Matrix
|
|
|
Compartment for Glycosphingolipid Synthesis
|
Golgi
|
|
|
Compartment for Prostaglandin Synthesis
|
ER
|
|
|
Compartment for Cholesterol Synthesis
|
Cytosol
|
|
|
Rate-Limiting Step for Cholesterol Synthesis
|
HMG CoA reductase
|
|
|
Compartment for Bile Synthesis
|
ER
|
|
|
Rate-Limiting Step for Bile Synthesis
|
Cholesterol-7-alpha-hydroxylase
|
|
|
Compartment for Steroid Synthesis
|
Mitochondria
|
|
|
Rate-Limiting Step for Steroid Synthesis
|
cholesterol side-chain cleavage enzyme complex (desmolase)
|
|
|
Number of carbons in HMG CoA
|
6C
|
|
|
Number of carbons in Mevalonic Acid
|
6C
|
|
|
Number of carbons in Isopentenyl Pyrophsphate (IPP)
|
5C
|
|
|
Number of carbons in 3,3-dimethylallyl pyrophosphate (DPP)
|
5C
|
|
|
Number of carbons in geranyl pyrophosphate
|
10C
|
|
|
Number of carbons in farnesyl pyrophosphate
|
15C
|
|
|
Number of carbons in squalene
|
30C
|
|
|
Number of carbons in lanosterol
|
30C
|
|
|
Number of carbons in Cholesterol
|
27C
|
|
|
Number of carbons in Pregnenolone
|
21C
|
|
|
Number of carbons in Bile Acid
|
24C
|
|
|
Deficiency/Cause for Chronic Granulomatosis
|
Mutation of NADPH Oxidase or Myeloperoxidase
|
|
|
Result for Chronic Granulomatosis
|
Decreased ability to fight off infection 2nd to decreased Superoxide and H2O2 levels
|
|
|
Symptoms for Chronic Granulomatosis
|
Recurrent severe, persistent pyrogenic infections
|
|
|
Deficiency/Cause for G6PD Deficiency
|
X-linked deficiency of Glucose-6-Phosphate Dehydrogenase
|
|
|
Result for G6PD Deficiency
|
Unable to keep glutathione in reduced form
|
|
|
Symptoms for G6PD Deficiency
|
Hemolytic anemia (Heinz bodies seen in RBC’s)
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Deficiency/Cause for Essential Fructosuria
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Autosomal recessive lack of Fructokinase
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Result for Essential Fructosuria
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Cannot convert fructose into fructose-1-phosphate, causes fructose build up
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Symptoms for Essential Fructosuria
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Fructose in urine
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Deficiency/Cause for Hereditary Fructose Intolerance (Fructose Poisoning)
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Autosomal recessive absence of Aldolase B
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Result for Hereditary Fructose Intolerance (Fructose Poisoning)
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Cannot lyse F1P into DHAP and glyceraldehydes, causes intracellular build up of F1P
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Symptoms for Hereditary Fructose Intolerance (Fructose Poisoning)
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Severe hypoglycemia, vomiting, jaundice, hemorrhage, hepatomegaly (eventual death if not fructose restricted)
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Deficiency/Cause for Galactokinase Deficiency
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Autosomal recessive deficiency in levels of Galactokinase
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Result for Galactokinase Deficiency
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Cannot convert galactose into galactose-1-phosphate. Causes galactose buildup
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Symptoms for Galactokinase Deficiency
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Galactosemia, galactosuria, cataracts (from elevated levels of galactitol formed from aldose reductase activity)
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Deficiency/Cause for Classic Galactosemia
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Autosomal recessive deficiency of Uridyltransferase
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Result for Classic Galactosemia
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Cannot metabolize galactose-1-phosphate, causes intracellular galactose-1-phosphate build up
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Symptoms for Classic Galactosemia
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Galactosemia, galactosuria, vomiting, diarrhea, liver damage, severe mental retardation, cataracts (from elevated levels of galactitol)
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Deficiency/Cause for Von Gierke’s Disease (Glycogen Storage Disease Type Ia)
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Glucose-6-Phosphatase deficiency
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Result for Von Gierke’s Disease (Glycogen Storage Disease Type Ia)
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Cannot convert G6P to free glucose
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Symptoms for Von Gierke’s Disease (Glycogen Storage Disease Type Ia)
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Severe fasting hypoglycemia
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Symptoms for
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Tx:nocturnal gastric feeding of glucose or cornstarch
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Deficiency/Cause for Glycogen Storage Disease Type Ib
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Glucose-6-Phosphate Translocase deficiency
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Result for Glycogen Storage Disease Type Ib
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Cannot transfer G6P to ER for processing
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Symptoms for Glycogen Storage Disease Type Ib
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Severe fasting hypoglycemia
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Symptoms for
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Tx same as above
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Deficiency/Cause for Pompe’s Disease (Glycogen Storage Disease Type II)
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Lack of Lysosomal Glucosidase (alpha1,4)- enzyme degrades glycogen continually
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Result for Pompe’s Disease (Glycogen Storage Disease Type II)
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The small 1-3% of glycogen processed in lysosome is unable to be processed, causing buildup of glycogen in lysosomes
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Symptoms for Pompe’s Disease (Glycogen Storage Disease Type II)
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Normal blood sugar levels and glycogen structure, massive cardiomegaly, excessive glycogen found in lysosomes under histo specimens,early death
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Deficiency/Cause for McArdle Syndrome (Glycogen Storage Disease Type V)
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Deficiency of skeletal muscle Glycogen Phosphorylase
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Result for McArdle Syndrome (Glycogen Storage Disease Type V)
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Unable to use the intramuscular glycogen for energy
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Symptoms for McArdle Syndrome (Glycogen Storage Disease Type V)
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Muscle weakness and cramping with exercise, high levels of glycogen with normal structure seen in muscle,no rises in blood lactate during normal exercise*- heart and muscle
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Deficiency/Cause for Hurler Syndrome
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Autosomal recessive Alpha-L-Iduronidase deficiency
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Result for Hurler Syndrome
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Cannot degrade dermatan sulfate and heparan sulfate
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Symptoms for Hurler Syndrome
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Corneal clouding, dwarfism, upper airway obstruction, mental retardation
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Deficiency/Cause for Sly Syndrome
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Autosomal recessive Beta-Glucuronidase deficiency
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Result for Sly Syndrome
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Cannot degrade dermatan sulfate and heparan sulfate
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Symptoms for Sly Syndrome
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Splenomegaly, hepatomegaly, short stature, mental deficiency, corneal clouding
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Deficiency/Cause for Hunter Syndrome
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X-Linked Iduronate Sulfatase deficiency
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Result for Hunter Syndrome
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Cannot degrade dermatan sulfate and heparan sulfate
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Symptoms for Hunter Syndrome
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Wide range of deficiency severity, no corneal clouding, there is physical deformity and mental retardation
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Deficiency/Cause for I-cell Disease (considered a glycoprotein storage disease)
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Specific deficiency of lysosomal hydrolytic enzymes secondary to error in glycoprotein routing
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Result for I-cell Disease (considered a glycoprotein storage disease)
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Mannose units on N-glycoprotein are not correctly addressed (phosphorylated) to go to the lysosome, instead end up outside cell
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Symptoms for I-cell Disease (considered a glycoprotein storage disease)
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Hydrolytic enzymes found in blood, urine and plasma, skeletal abnormalities, restricted joint movement, severe psychomotor impairment, and large inclusion bodies seen on histo specimens
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Deficiency/Cause for Glycoprotein Storage Diseases
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General deficiency in Lysosomal Hydrolases
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Result for Glycoprotein Storage Diseases
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Results in accumulation of partially digested glycoproteins in lysosomes.
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Symptoms for Glycoprotein Storage Diseases
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Wide range of disorders and symptoms, large inclusion bodies seen on histo specimens
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Deficiency/Cause for Cystic Fibrosis
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Chloride channel mutation
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Result for Cystic Fibrosis
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Thickened pancreatic (and other body fluids) secretions that do not flow well into duodenum
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Symptoms for Cystic Fibrosis
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Pancreatic lipase insufficiency secondary to thickened secretions. Rely on lingual and gastric lipases for lipid breakdown. Steatorrhea, lipid malabsorption
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Deficiency/Cause for Shortened Bowel Syndrome
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Surgical bowel resection/removal/rerouting (gastric bypass)
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Result for Shortened Bowel Syndrome
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Less time in bowel = less absorption
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Symptoms for Shortened Bowel Syndrome
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Steatorrhea, lipid malabsorption
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Deficiency/Cause for Familial Lipoprotein Lipase Deficiency (Type I Hyperlipoproteinemia aka Buerger-Gruetz Syndrome
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Autosomal recessive Lipoprotein Lipase or CoEnzyme Apo C-II deficiency
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Result for Familial Lipoprotein Lipase Deficiency (Type I Hyperlipoproteinemia aka Buerger-Gruetz Syndrome
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Decreased rate or lack of breakdown of circulating lipids
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Symptoms for Familial Lipoprotein Lipase Deficiency (Type I Hyperlipoproteinemia aka Buerger-Gruetz Syndrome
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Fasting chylomicronemia and hypertriacylglycerolemia
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Deficiency/Cause for Familial Dysbetalipoproteinemia (Type III Hyperlipoproteinemia)
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Apo E2 deficiency
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Result for Familial Dysbetalipoproteinemia (Type III Hyperlipoproteinemia)
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Chylomicron remnants not taken up by liver
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Symptoms for Familial Dysbetalipoproteinemia (Type III Hyperlipoproteinemia)
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Plasma accumulation of remnants.
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Deficiency/Cause for Primary (Congenital) CPT-1 Deficiency
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Carnitine Palmitoyltransferase I deficiency
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Result for Primary (Congenital) CPT-1 Deficiency
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Decreased ability to metabolize (move into mitochondria) long chain fatty acids for energy
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Symptoms for Primary (Congenital) CPT-1 Deficiency
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Affects mainly liver. Results in severe hypoglycemia, coma, and death.
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Deficiency/Cause for Primary (Congenital) CPT-II Deficiency
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Carnitine Palmitoyltransferase II deficiency
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Result for Primary (Congenital) CPT-II Deficiency
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Decreased ability to metabolize (move into mitochondria) long chain fatty acids for energy
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Symptoms for Primary (Congenital) CPT-II Deficiency
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Affects mainly cardiac and skeletal muscle resulting in muscle weakness and cardiomyopathy.
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Deficiency/Cause for Secondary Carnitine Deficiency
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Decreased levels of Carnitine in system
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Result for Secondary Carnitine Deficiency
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Decreased ability to metabolize (move into mitochondria) long chain fatty acids for energy
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Symptoms for Secondary Carnitine Deficiency
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Not genetic, rather, results in mechanical removal (dialysis) or decreased production due to other disease processes (cirrhosis). Affects production of CPT-I and CPT-II
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Deficiency/Cause for Sudden Infant Death Syndrome
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Possibly involved with Medium Chain Length Acyl CoA Dehydrogenase deficiency
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Result for Sudden Infant Death Syndrome
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Not well understood. Varied theories
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Symptoms for Sudden Infant Death Syndrome
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Name says it all.
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Deficiency/Cause for Reye’s Syndrome
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Possibly involved with Medium Chain Length Acyl CoA Dehydrogenase deficiency
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Result for Reye’s Syndrome
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Not well understood, varied theories, associated with aspirin intake by children/adolescents
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Symptoms for Reye’s Syndrome
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Fatty liver, lethargy, vomiting, cerebral edema, leading to coma and death if not quickly diagnosed
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Deficiency/Cause for Methylmalonic Acidemia and Aciduria
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Deficiency of Methylmalonyl CoA Mutase or inability to synthesize Cobalamin
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Result for Methylmalonic Acidemia and Aciduria
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Inability to effectively convert L-Methylmalonyl CoA to Succinyl CoA in odd number carbon FA catabolism
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Symptoms for Methylmalonic Acidemia and Aciduria
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Low blood and urine pH and mental retardation
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Deficiency/Cause for Zellweger Syndrome
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Defect in ability to synthesize peroxisomes for fatty acid chain above 18 (VLCFA’s)
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Result for Zellweger Syndrome
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Accumulation of Very Long Chain Fatty Acids
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Symptoms for Zellweger Syndrome
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Mental impairment, motor problems
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Deficiency/Cause for X-Linked Adrenoleukodystrophy
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Defect in the ability to transport the VLCFA across the peroxisome membrane for degradation
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Result for X-Linked Adrenoleukodystrophy
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Accumulation of Very Long Chain Fatty Acids
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Symptoms for X-Linked Adrenoleukodystrophy
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Mental impairment, motor problems
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Deficiency/Cause for Refsum’s Disease
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Deficiency of alpha-Hydroxylase
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Result for Refsum’s Disease
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Inability to metabolize branched chain fatty acids
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Symptoms for Refsum’s Disease
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Retinitis pigmentosum, peripheral neuropathy, nerve deafness, cerebellar ataxia
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Deficiency/Cause for Respiratory Distress Syndrome
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DPPD (Dipalmitoylphosphatidylcholine) deficiency
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Result for Respiratory Distress Syndrome
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Decreased surfactant production
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Symptoms for Respiratory Distress Syndrome
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Respiratory distress
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Deficiency/Cause for Niemann-Pick Disease
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Autosomal recessive Sphingomyelinase deficiency
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Result for Niemann-Pick Disease
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Inability to efficiently degrade sphingomyelin, resulting in accumulation of it in liver and spleen
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Symptoms for Niemann-Pick Disease
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Severe mental retardation, death.
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Deficiency/Cause for Tay-Sachs Disease
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Autosomal recessive deficiency of beta-Hexosaminidase
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Result for Tay-Sachs Disease
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Accumulation of lipid Ganglioside GM2
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Symptoms for Tay-Sachs Disease
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Rapid and progressive neurodegeneration, blindness, cherry red macula of retina, muscular weakness, seizures. Prominent in Ashkenazi Jews
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Deficiency/Cause for Gaucher Disease
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Autosomal recessive deficiency of beta-Glucosidase (Glucocerebrosidase)
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Result for Gaucher Disease
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Accumulation of Glucocerebrosides
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Symptoms for Gaucher Disease
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Most common lysosomal storage disease. Causes hepatosplenomegaly, osteoporosis, CNS impairment.
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Deficiency/Cause for Fabry Disease
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X-Linked deficiency of alpha-Galactosidase A
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Result for Fabry Disease
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Accumulation of Globotriaosylceramide
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Symptoms for Fabry Disease
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Reddish-purple skin rash, kidney and heart failure, pain in lower extremities
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Deficiency/Cause for Farber Disease
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Autosomal recessive deficiency of Ceramidase
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Result for Farber Disease
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Accumulation of Ceramide
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Symptoms for Farber Disease
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Painful and progressive joint deformity, tissue granulomas, hoarse cry
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