Metabolic disorders overview — 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: Maple syrup urine disease is characterized by blocked degradation of _____ amino acids

Answer: branched

Flashcard 4: What is the most common enzymatic disorder of RBCs? _____

Answer: G6PD deficiency

Flashcard 5: What is the most common mode of inheritance of pyruvate dehydrogenase deficiency? _____

Answer: X-linked

Flashcard 6: Mutation of the frataxin gene in Friedreich ataxia leads to impairment of _____ function

Answer: mitochondrial

Flashcard 7: Which lysosomal storage disease may be treated with recombinant enzyme therapy? _____

Answer: Gaucher disease (i.e. recombinant glucocerebrosidase)

Flashcard 8: During oxidative phosphorylation, how many ATP are produced per FADH2?

Answer: 1.5 (Classic value: 2)

Extra: According to modern P/O ratios: - NADH produces ~2.5 ATP - FADH2 produces ~1.5 ATP Older textbooks often use the rounded integers 3 and 2 respectively.

Flashcard 9: Where does oxidative phosphorylation take place?

Answer: mitochondria

Flashcard 10: Where does the TCA cycle take place?

Answer: mitochondria