我諗到一題關於metabolism比你地試下:
Pyruvate dehydrogenase deficiency is one of the most common disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase is a key enzyme involved in the production of acetyl-CoA from pyruvate.
It is an X-linked disease that shows heterogeneous characteristics in both clinical presentation and biochemical abnormality.
The clinical presentation of congenital PDH deficiency is typically characterized by heterogenous neurological features that usually appear within the first year of life.
In addition, patients usually show metabolic acidosis (abnormally low pH value in blood).
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Q1: Explain why it is very rare to find female patients of pyruvate dehydrogenase deficiency.
(2 marks)
Q2: Explain the source of acidosis in patients with pyruvate dehydrogenase deficiency.
(3 marks)
Q3: Explain why high fat diet may help prevent acidosis in these patients?
(2 marks)
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