Management strategies for GSDs — Flashcards

Flashcard 1: Treatment for pyruvate dehydrogenase deficiency includes increased intake of _____ nutrients

Answer: ketogenic

Flashcard 2: What is the mode of inheritance of glycogen storage diseases?_____

Answer: Autosomal recessive

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: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____

Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)

Flashcard 5: Von Gierke disease is characterized by severe fasting _____

Answer: hypoglycemia

Flashcard 6: glycogen synthesis

Answer: glycogen synthase

Flashcard 7: glycogenolysis

Answer: glycogen phosphorylase

Flashcard 8: 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 9: 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)

Flashcard 10: von Gierke's disease (GSD type I)

Answer:

Extra: hepatomegalysevere fasting hypoglycemia, increased blood lactatevery increased hepatic glycogen storesARglucose-6-phosphatasemnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)