GSD type IV (Andersen disease) US Medical PG Flashcards - Medical Study Cards
Master GSD type IV (Andersen disease) 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.
GSD type IV (Andersen disease) Flashcard Deck - 10 Cards
Flashcard 1: What is the mode of inheritance of maple syrup urine disease?_____
Answer: Autosomal recessive
Flashcard 2: What is the mode of inheritance of glycogen storage diseases?_____
Answer: Autosomal recessive
Flashcard 3: Vitamin B12 deficiency takes _____ to develop due to large hepatic stores
Answer: years
Flashcard 4: _____ is a lysosomal storage disease caused by splice site mutations.
Answer: Gaucher disease
Flashcard 5: glycogen synthesis
Answer: glycogen synthase
Flashcard 6: glycogenolysis
Answer: glycogen phosphorylase
Flashcard 7: 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 8: 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 9: 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)
Flashcard 10: Describe, in general, the glycogen storage diseases.
Answer: Diverse group of diseases resulting from defects in glycogen metabolism, characterized by an accumulation of glycogen within cells.
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