GSD type V (McArdle disease) — Flashcards

Flashcard 1: Which lysosomal storage disease is characterized by a cherry red spot on the macula and no hepatosplenomegaly? _____

Answer: Tay-Sachs disease

Flashcard 2: Which glycogen storage disorder is associated with severe fasting hypoglycemia? _____

Answer: Von Gierke disease

Flashcard 3: The hallmark of what glycogen storage disease is a flat venous lactate curve with a rise in ammonia levels during exercise?_____

Answer: McArdle disease

Flashcard 4: Treatment of maple syrup urine disease includes high-dose _____ supplementation

Answer: thiamine

Flashcard 5: Primary carnitine deficiency is characterized by muscle weakness and hypotonia, which is provoked by prolonged _____ (especially if fasting)

Answer: exercise

Flashcard 6: Which glycogen storage disorder is associated with increased glycogen in muscle? _____

Answer: McArdle disease

Flashcard 7: glycogen synthesis

Answer: glycogen synthase

Flashcard 8: glycogenolysis

Answer: glycogen phosphorylase

Flashcard 9: McArdle's disease (GSD type V)

Answer:

Extra: painful muscle cramps, myoglobinuria with strenuous exerciseglycogen accumulation in muscleARskeletal muscle glycogen phosphorylasemnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)

Flashcard 10: Cori's disease (GSD type III)

Answer:

Extra: hepatomegalyfasting hypoglycemia, increased hepatic glycogen stores, normal blood lactate levelsARglycogen debranching enzymemnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)