Genetics and inheritance of GSDs — Flashcards

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

Answer: Von Gierke disease

Flashcard 2: 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 3: X-linked recessive diseases are commonly more severe in _____

Answer: males

Flashcard 4: What is the mode of inheritance of G6PD deficiency? _____

Answer: X-linked recessive

Flashcard 5: What is the inheritance of Menkes disease? _____

Answer: X-linked recessive

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)