glycogen storage diseases Flashcards

1
Q

Von Gierke’s disease (type I) findings

A

severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly

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2
Q

Von-Gierke’s deficient enzyme

A

glucose-6-phosphatase

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3
Q

Pompe’s disease (type II) findings

A

cardiomegaly, hepatosplenomegaly, muscle weakness

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4
Q

Pompe’s disease deficienct enzyme

A

lysosomal alpha-1,4-glucosidase (acid maltase)

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5
Q

Cori’s disease (type III) findings

A

milder form of type I with normal blood lactate levels

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6
Q

Cori’s disease deficienct enzyme

A
debranching enzyme (alpha-1,6-glucosidase)
dextrin-like material accumulates
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7
Q

Andersen disease (type IV) findings

A

hypotonia, cirrhosis, usually death by 2

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8
Q

Andersen disease deficienc enzyme

A

branching enzyme

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9
Q

McArdle’s disease (type V) findings

A

increased glycogen in muscle, painful muscle cramps, myoglobinuria with strenuous exercise, second wind phenomenon

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10
Q

McArdle’s disease deficienct enzyme

A

skeletal muscle glycogen phosphorylase

myophosphorylase deficiency

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