Management strategies for GSDs US Medical PG Flashcards - Medical Study Cards
Master Management strategies for GSDs with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Management strategies for GSDs Flashcard Deck - 10 Cards
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 exercise glycogen accumulation in muscle AR skeletal muscle glycogen phosphorylase mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
Flashcard 9: Cori's disease (GSD type III)
Answer:
Extra: hepatomegaly fasting hypoglycemia, increased hepatic glycogen stores, normal blood lactate levels AR glycogen debranching enzyme mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
Flashcard 10: von Gierke's disease (GSD type I)
Answer:
Extra: hepatomegaly severe fasting hypoglycemia, increased blood lactate very increased hepatic glycogen stores AR glucose-6-phosphatase mnemonic: Very Bad Carbohydrate Metabolism (the glycogen storage diseases in order)
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