USMLE Step 1 - Biochem
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Type 1 (Von Gierke) | lack of G-6-Phosphatase present in only kidney & liver;accumulation of G-6-P & G-1-P,cant become glucose-also cant become glucose from gluconeogenesis & G-1-P inhibits glycogen phosphorylase = further hypoglycemia w/ hepatorenomegaly
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| Type 2 (Pompe) | lack of alpha-glycosidase;accumulation of glycogen & no glucose nor G-1-P causes hepatocardiomegaly also death by age 2,also affects other organs
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| Type 3 (Cori's) | lack of debranching enzyme;accumulation of branched glycogen that results in hepatomegaly
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| Type 4 (McArdle) | lack of skeletal muscle phosphorylase;results in accumulation of glycogen in skeletal muscle causing muscle pain & cramps w/ no rise in lactate = starvation w/ no glucose for glycolysis,progress to muscle weakness despite glycogen content
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