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8 Cards in this Set
- Front
- Back
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Enzyme deficient in (type I) - VonGierke's disease
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Glucose 6-Phosphatase
Only present in the liver Glucose 6-P > Glucose |
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Enzyme deficient in (type II) - Pompe's disease
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Lysosomal alpha-1,4-glucodidase (acid maltase)
Glycogen > Glucose |
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Enzyme deficient in (type III) - Cori's disease
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Debranching enzyme (alpha-1,6-glucosidase)
Limit dextrins > Glucose |
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Enzyme deficient in (type V) - McArdle's disease
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Skeletal muscle glycogen phosphorylase (myophosphorylase)
Glycogen > Glucose 1-P or dextrins |
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Findings with VonGierke's disease
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Severe fasting hypoglycemia
High levels of glycogen in the liver High blood lactate levels Hepatomegaly Hyperlipidemia Hepatic steatosis Hyperuricemia Growth retardation |
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Findings with Pompe's disease
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Cardiomegaly and hypotonia
Early death (by age 2) |
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Findings with Cori's disease
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Milder form of type I with normal blood lactate levels
Gluconeogenesis is intact Accumulation of dextrin-like structures in the hepatic cytosol Absence of fatty infiltrate |
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Findings with McArdle's disease
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Increase in muscle glycogen, but unable to break it down
Painful muscle cramps, myoglobinuria, and little-to-no rise in serum lactate levels with strenuous exercise |
