Biochemistry

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Enzyme Defective in Von Gierke Disease and clinical signs

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Glucose-6-Phosphatase deficiency; neonatal hypoglycemia, hyperlipidemia,lactic acidosis, ketoacidosis, hepatomegaly,gout(later)

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Hexose Monophosphate Shunt converts what to what? Function?

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Glucose6Phosphate to C02, Ribulose-5-Phosphate (nucleotide synthesis), NADPH

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Functions of NADPH

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Reduces Glutathione in RBC, indirectly reducing H2O2; FA and steroid biosynthesis; critical for microsomal cytochrome P450 mono-oxygenase system; respiratory burst

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NADPH oxidase deficiency causes

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chronic granulomatous disease

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Glucose6Phosphate Deficiency: consequences

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Rate-limiting enzyme in HMP shunt. Without it, unable to maintain reduced glutathione, because can't supply NADPH via HMP shunt. X-linked rec. Hemolytic anemia

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Examples of oxidizing agents that can cause hemolytic anemia in G6PD

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flava beans, sulfonamides, primaquine, anti-TB drugs, INFECTION

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Does oxidative phosphorylation consume/produce NADPH?

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NO, it produces 3 NADH, 1 FADH2, and 1 GTP

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Refsum's disease

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inability to degrade phytanic acid, a branched chain FA found in dairy. accumulation of the lipid is found in plasma and tissue

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2 essential FAs

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linoleic acid (precusor for arachodonic acide and the prostaglandins)
Linolenic acid

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Biotin is the coenzyme for what two enzymes/rxns?

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acetyl CoA carboxylase in the conversion of acetyle CoA to malonyl CoA and pyruvate carboxylase in the conversion of Pyruvate to OAA both use it as a coenzyme.

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What is the regulated step in FA synthesis? what regulates it?

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acetyl CoA carboxylase conversion of acetyl CoA to malonyl CoA. inactivated by mal CoA, palmitoyl CoA, and phosphorylation.

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2 sources of NADPH for FA synthesis

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2 NADPH per glucose from hexose monophosphate shunt. Cytosolic conversion of malate to pyruvate from the citrate shuttle to get acetyl CoA from mitochondria to cytosol

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2 important enzymes involved in FA synthesis

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Acetyl CoA carboxylase (w/ biotin); fatty acid synthase (7 enzymatic functions)

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Fatty Acid SYnthase components

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ACP + SH groups of cysteine (as dimer) and pantothenic acid

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Aerobic glycolysis equation

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Glucose + 2Pi + 2NAD+ + 2ADP -->
2 Pyruvate + 2ATP + 2NADH + 2H+ + H20

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Anaerobic glycolysis eqt

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Glucose + 2Pi + 2ADP -->
2 lactate + 2ATP + 2H2O

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citrate lyase

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cleaves citrate in the cytosol to acetyl CoA and OAA for FA synthesis

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Pyruvate carboxylase

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Pyruvate to OAA in gluconeogensis (in mitochondria?)

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pyruvate dehydrogenase

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Irreversibly converts pyruvate to acetyl CoA in mitochondria

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Glycerol phosphate

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Initial acceptor of fatty acids during the synthesis of triacylglycerol

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thiokinase (fatty acyl CoA synthetase)

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catalyzes conversion of fatty acid to its active form (attached to coenzyme A) so that it can participate in TAG synthesis

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2 enzyme deficiencies that both can cause hemolytic anemia

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G6PD deficiency (X-linked recessive) and Pyruvate Kinase deficiency (autosomal recessive) can both cause this

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Type V glycogen storage disease affecting muscles only, defective gyclogen phosphorylase

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McArdle's Disease - muscle weakness

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TPP is a cofactor for what rxn

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Pyruvate decarboxylase requires it as a cofactor in converting pyruvate to acetyl CoA

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Lesch-Nyhan syndrome

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Purine salvage problem d/t absence of HGPRTase, which convers hypoxanthine to inosine monophosphate (IMP)and GMP. x-linked recessive; find retardation, self-mutilation, hyperuricemia

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3 examples of serine proteases - they produce active enzymes from proenzymes in cascades

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trypsin and chymotripsin and thrombin (cleaves fibrinogen to form fibrin clot) are all examples of this

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cholesterol 7 alpha hydroxylase

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performs first step in converting lipid cholesterol to bile acid

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defective enzyme in tyrosine catabolsim causing alkaptonuria

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homogentisate oxidase is defective in tyrosine catabolism resulting in this disorder

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3 Disorders Associated with Thiamine deficiency

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dilated cardiomegaly "wet beriberi"
polyneuropathy "dry berberi"
Mammilary body degeneration = Wernike's Korsakof syndrome

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Galactosemia

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deficiency in Uridyl transferase, converts Galactose 1 Phosphate to Glucose 1 Phosphate. Galact1P builds up as does galactitol causing mental retardation, cataracts, hepatosplenomegaly

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Metabolic alterations seen in chronic alcoholic (NADH/NAD+ ratio, what pws are inhibited? what products are made?)

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Increased NADH/NAD+ ratio b/c ethanol dehydrogenase puts an H on NAD+ to NADH--> decreases FA oxidation, inhibits gluconeogenesis, makes lactate from pyruvate, favors G3P to DHAP frmation

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Pompe Disease Defect

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lysosomal alpha glucosidase deficiency- results in accumulation of glycogen in all organs cardiac and skeletal muscle invovement

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maple syrup urine disease

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Defective alpha ketoacid dehydrogenase- decreased degradation of branched AAa (Ile, Val, Leu)

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Dolichol

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substrate for forming branched carbohydrates that are then transferred to proteins in glycoprotein synthesis

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Hartnup's Disease

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defect in transport of neutral amino acids, incuding tryphtophan, precursor for niacin. Can resemble pellagra (dermatitis, diarrhea, demensia) poor AA absorption, increased AA in urine

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cretenism

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lack of thyroid hormone often due to iodine deficency- causes mental retardation, distended abdomen, puffy, pale face, enlarged tongue

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Albinism

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Congenital defect in either Tyrosinase (inability to convert aromatic amino acid Tyrosine to melanin) or defect in tyrosine transporters

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Tay Sachs

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Disorder of glycolipids, Deficient Hexosaminidase A results in accum of GM2 ganglioside

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Citrate "negatively feedsback" to what enzyme

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PFK - rate determining step in glycolysis is regulated by it

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Niemann-Pick disease

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sphingomyelinase deficiency - enlarged liver and spleen filled with lipid, severe mental retardation, childhood death

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Dipalmitoylphosphidylcholine

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major lipid in lung surfactant made in type II pneumocytes. Deficiency = Respiratory Distress Syndrome

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Phosphatidic acid is a precursor of

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phosphogycerides and tracylgycerol

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Acetoacetyl CoA is a precursor of

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ketone bodies and cholesterol and a breakdown product of fatty acid oxidation

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2 X-linked recessive lysosomal storage disorders

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Fabry's (alpha galactosidase A) and Hunter's (Iduronate sulfatase)

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Tay Sach's defect, accumulated product, symptoms

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Hexosaminidase A, GM2 ganglioside accum, prog neurodegen, dev delay, cherry-red spot

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Fabry's defect, accum product, symptoms

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Alpha galactosidase, ceramide trihexoside, periph neuropathy of hands/feet, angiokeratomas (red-purple skin rash), cardiovasc/renal disease, x-linked rec

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Gaucher's Disease

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B-Glucocerebrosidase def, accum Glucocerebroside, HepSplenmegaly, osteoporosis, aseptic necrosis of femur, "Gaucher Cells" = macrophages, mental retardation in infantile form

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Metachromatic Leukodystrophy

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Lysosomal storage disorder. Arylsulfatase A deficiency, inc in sulfatides, mental retardation, demyelination with ataxia, dementia,nerves stain yellowish brown = metachromasia, fatal in 1st decade

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Krabbe's disease

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B-galactosidase, galactocerebroside accum, periph neuropathy, dev delay, optoc atrophy, mental retardation, fatal early in life

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Farber's disease

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Defect in ceraminidase, accum ceramide, painful and deformed joints, fatal early in life

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Hurler's syndrome

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defect in L-iduronidase, accum heparan sulfate, dermatan sulfate, dev delay, airway obstruction, corneal clouding, gargoylism

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Hunter's Syndrom

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Defect in iduronate sulfatase; mild hurler's synd + aggressive behavior, no corneal clouding

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Cholesterol carbons are provided by_______ and the reducing equivalent is ____

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acetate provides the carbons and NADPH provides the reducing equivilents, synthesis occurs in cytosol

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Effects of cholesterol, glucagon, insulin, peripheral uptake, and drugs on HMG CoA reductase

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cholesterol decreases it, glucagon phosphorylates it and decreases it, insulin promotes unphosph and activates it, increased liver and periph uptake decreases it and statins decrease it

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rate limiting step in steroid hormone synthesis; converts cholesterol to pregnenolone

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desmolase; requires NADPH and molecular oxygen

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Carnitine transferase

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transports LC FAs into mitochondria for Boxidation; defiencey can cause hypoglycemia, hyperammonemia, skeletal msucle weakness, fatty liver, confusion

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galactosemia

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galactose 1 phosphate uridyltransferase defect; galactose 1 phosphate (and galactitol) accumulate and cuase cataracts, hepsplenmegaly, mental retardation, growth failure

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microsomal transfer protein

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packages hepatic TAGs with other components of VLDL - defect = low cholesterol d/t inability to absorb and transport fat-sol vit; dec vit E = night blind, hyporeflexia

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alpha 1,4-->alpha 1,6 glucan transferase

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branching enzyme in glycogen synthesis; without it, breakdown yields high ratio of gluc1phos to glucose

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alpha 1,6 glucosidase

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part of Fatty Acid breakdown debranching enzyme that cleaves alpha 1,6 residues

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Aldolase B

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Fructose 1 Phosphate aldolase; converts Fructose 1 Phosphate to DHAP and Glyceraldehyde; defect = Fructose intolerance