Diagnostic approaches to GSDs — Flashcards

Flashcard 1: Which glycogen storage disorder is associated with severe fasting hypoglycemia? _____

Answer: Von Gierke disease

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

Answer: Autosomal recessive

Flashcard 3: Which lysosomal storage disease is the most common?_____

Answer: Gaucher disease

Flashcard 4: _____ is a lysosomal storage disease caused by splice site mutations.

Answer: Gaucher disease

Flashcard 5: Which glycogen storage disorder is associated with increased glycogen in muscle? _____

Answer: McArdle disease

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)