GSD BIOCHEM Flashcards

1
Q

Affects muscle and phosphofructokinase enzyme

Deficiency: MUSCLE PFK-1

A

Tarui’s Disease (T7)

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2
Q

DEFICIENCY: branching enzyme

HYPOGLYCEMIA, HEPATOMEGALY

A

Andersen’s Disease (T4)

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3
Q

Deficiency: glycogen synthase

HYPOGLYCEMIA

A

GSD 0

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4
Q

Deficiency: liver phosphorylase

HYPOGLYCEMIA

A

Her’s Disease (T6)

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5
Q

Deficiency: Glucose-6-phosphate

HYPOGLYCEMIA

A

Von Gierke’s (T1)

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6
Q

DEFICIENCY: Lysosomal Glucosidase(acid maltase)

CARDIOMEGALY. HEART FAILURE

A

Pompe’s (T2)

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7
Q

Deficiency: live and muscle debranching enzyme

HYPOGLYCEMIA, HEPATOMEGALY

A

Cori’s Disease (T3)

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8
Q

Deficiency: muscle phosphorylase

MUSCLE WEAKNESS

A

McArdle’s Disease (T5)

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