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17 Cards in this Set
- Front
- Back
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Pompe Disease (Type II)
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Glycogen degradation disease:
Deficient: Lysosomal a(1-4) glucosidase Lysosomal enzyme defect Excess glycogen in vacuoles of lysosomes Normal Blood glucose levels Cardiomegly, death(infantile form) Organs involved: cardiomegly (heart) Blood metabolites: normal blood glucose |
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McArdle Syndrome (Type V)
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Glycogen deficiency disease:
deficiency: Glycogen phosphorylase excess: glycogen Weakness and cramping in muscles, no ^ in blood lactate after exercise, normal mental development, myoglobemia Organs involved: Cramping in skeletal muscle after exercise Blood metabolites: ^myoglobin, no^ in lactate after exercise |
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Von Gierke Disease (Type I)
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Glycogen Disease:
Deficiency: Glucose 6-phosphatase Organs involved: Hepatomegaly(liver), Renomegaly(kidneys) Blood metabolites: ^lactic acid ^uric acid, ^lipids, decreased glucose during fasting |
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The synthesis of what molecule is deficient in a patient who has loss of function and mutation in his glucose 6-P Dehydroginase (G6PD)?
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NADPH
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Chronic Granulomatous Disease
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Disorder of NADPH in phagocytosis:
Deficiency: NADPH Oxidase Symptoms: persistent infections, nodular areas granulomas form |
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RBC defense against oxidative damage?
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Through the Glutathione reduction. This is needed for Glutathione to neutralize H2O2. Reduction occurs through Glutathione reductase which needs NADPH to work.
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Glucose 6-Phosphate Dehydrogenase(G6PD) deficiency in RBC
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Forms hemolysis bc there is a lack of this enzyme that forms NADPH. NADPH reduces Glutathione with enzyme glutathione reductase. Reduced back into the form that allows glutathione peroxidase to turn H2O2 to H2O. Glutathione is then oxidized back.
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Acute Hemolytic Anemia
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Deficient in G6PD enzyme--> Shortage of NADPH levels-->
Inefficient reduction of Glutathione--> decreased Glutatione levels--> oxidation of cell membrane proteins--> rigid RBC and are destroyed ^Bilirubin levels(bc breakdown of Hg), Jaundice, ^fatigue, ^pallor, ^reticulocyte (immature rbc) |
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Severity of G6PD deficiency
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Mediterrenian decent. less than 10% enzyme activity. can have reduced catalytic activity, reduced stability, reduced affinity to NADP, reduced affinity to glu6-P.
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Classic Galactosemia
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Disorder of galactose breakdown: UDP-galactose can't form
Deficient: Uridyultransferase Excess: galactose 1-P in nerve , lense, liver and kidney Symptoms: Vomiting, diarrhea, jaundice. liver damage, mental retardation Newborn screening is available |
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Hereditary Fructose Intolerance (Fructose Poisoning)
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Disease of Fructose metabolism:
Absence of: Aldolase B= fru 1-P trapped in cell and no ATP can form. Symptoms: Hypoglycemia, vomiting, jaundice, hemorrhage, hepatomegaly. Hepatic failure and death |
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A deficiency of what enzyme is the most common cause of lactic acidosis?
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Pyruvate Dehydroginase
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Thiamine Deficiency
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TCA issue
Affects tissues with ^ rate of ATP production from NADH (from TCA) Heart muscle, skeletal muscle, nervous system=Heart Failure |
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Pyruvate Dehydroginase Deficiency
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Pyruvate to acetyl CoA disorder. causes congenital lactic acidosis. X-linked dominant(impt in the brain). Excess of pyruvate goes to lactic acid by lactate dehydrogenase. Can cause neonatal death.
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Arsenic Poisoning
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Interferes with glycolysis and TCA=decreased ATP production. Inhibits pyruvate and a-ketoglutarate dehydrogenase. Excess pyruvate and lactate. Neurological problems and death.
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Inherited Deficiency in TCA=
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Neurological Disorders
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Increased Acetyl CoA
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From high Ethanol levels in the blood. Acetyl CoA is an inhibitor of Acetyl CoA production through pyruvate for the TCA cycle. Body detects if you have enough Acetyl CoA, you don't need more so it will inhibit TCA from occurring. The excess Pyruvate goes to make lactate=Metabolic acidosis=compensation through heavy breathing.
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