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AAAA Step 1 Stuff > Glycogen Storage Diseases > Flashcards

Glycogen Storage Diseases Flashcards

1
Q

Severe fasting hypoglycemia
Increased lactate
Gout

(Dx, deficient enzyme)

A

Type I (von Gierke)

Deficient Glucose-6-phosphatase

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2
Q

Cardiomegaly
Hypotonia
Exercise intolerance

(Dx, deficient enzyme)

A

Type II (Pompe)

Deficient a-1,4-glucosidase (only in lysosomes)

Pompe trashes the Pump - heart, 1,4

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3
Q

Mild fasting hypoglycemia
Limit-dextrin accumulation in cytosol

(Dx, deficient enzyme)

A

Type III (Cori)

Debranching enzyme (a-1,6-glucosidase)

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4
Q

Muscle cramps
Myoglobinuria
Arrythmias

(Dx, deficient enzyme)

A

Type V (McArdle)

Glycogen phosphorylase (only skeletal muscle)

McArdle = muscle only

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AAAA Step 1 Stuff (4 decks)

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