GSD type VI (Hers disease) — Flashcards

Flashcard 1: Which glycogen storage disease has an increased risk for gout? _____

Answer: Von Gierke disease

Flashcard 2: Glucocorticoids increase hepatic _____ storage

Answer: glycogen

Flashcard 3: Which two organs produce nascent HDL? _____

Answer: Liver, Intestines

Flashcard 4: What glycolysis enzyme deficiency causes hemolytic anemia in a newborn?_____

Answer: Pyruvate kinase deficiency

Flashcard 5: Which glycogen storage disorder is associated with accumulation of limit dextrin-like structures? _____

Answer: Cori disease

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: Rate-limiting enzyme of glycogenolysis

Answer: glycogen phosphorylase

Flashcard 9: What is the enzyme deficiency in McArdle's disease (GSD type V)?

Answer: Deficiency of skeletal muscle glycogen phosphorylase (myophosphorylase) :: enzyme deficiency?

Extra: - Presentation: Painful muscle cramps, myoglobinuria (rhabdomyolysis) with strenuous exercise, and "second-wind" phenomenon. - Pathophysiology: Glycogen accumulation in muscle; cannot break down glycogen to glucose-1-phosphate. - Genetics: Autosomal Recessive (AR). - Mnemonic: Very Poor Carbohydrate Metabolism (Von Gierke, Pompe, Cori, McArdle).

Flashcard 10: Cori's disease (GSD type III) is caused by a deficiency in which enzyme?

Answer: Debranching enzyme deficiency (α-1,6-glucosidase) \n\nCharacterized by: hepatomegaly, fasting hypoglycemia, normal blood lactate levels, and accumulation of limit dextrin-like structures.

Extra: Inheritance: Autosomal Recessive (AR)\nMnemonic: Very Poor Carbohydrate Metabolism (Von Gierke, Pompe, Cori, McArdle) - although Cori is Type III. \n\nNote: Blood lactate is normal in Cori's disease, unlike Von Gierke's (Type I) where it is elevated. Muscle involvement (weakness) can also be seen in Cori's.