Glycogen Storage Diseases Flashcards

1
Q

Von Gierke disease findings

A

Severe fasting hypoglycemia with super increased glycogen in the liver
Increased blood lactate
Increased triglycerides
Increased uric acid

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2
Q

Von gierke disease deficient enzyme

A

Glucose-6-phosphatase

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3
Q

Von Gierke disease treatment

A

Frequent glucose and cornstarch, avoid fructose and galactose

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4
Q

Pompe disease findings

A

Cardiomegaly
Hypertrophic cardiomyopathy
Exercise intolerance
Systemic findings lead to early death

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5
Q

Pompe disease deficient enzyme

A

Lysosomal alpha 1-4 glucosidase

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6
Q

Cori disease findings

A

Mild form of Von Gierke’s

Normal blood lactate levels

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7
Q

Cori disease deficient enzyme

A

Debranching enzyme (alpha 1,6 glucosidase)

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8
Q

McArdle disease findings

A

Increased glycogen in muscle
Painful cramps and myoglobinuria after exercise
Arrhythmia after electrolyte imbalances

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9
Q

McArdle Disease deficient enzyme

A

Skeletal muscle glycogen phosphorylase

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10
Q

McArdle Disease treatment

A

Vitamin B6 (pyridoxine)

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