Pyruvate dehydrogenase deficiency

Summary of Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase deficiency, also called pyruvate dehydrogenase complex deficiency, is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase deficiency is an X-linked disease that shows heterogeneous characteristics in both clinical presentation and biochemical abnormality. The pyruvate dehydrogenase complex is a multi-enzyme complex that plays a vital role as a key regulatory step in the central pathways of energy metabolism in the mitochondria.

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Biochemistry and nutrition

Biochemistry

Biochemistry and metabolism
Metabolic disorders

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Pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase deficiency

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Pyruvate levels (increase/decrease) in pyruvate dehydrogenase deficiency.

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A 1-month-old boy comes to the emergency department because, per his parents, "he has been acting strangely since being brought home from the hospital." His mother says he has not been eating well and seems lethargic. Physical examination shows mild hypotonia with no other abnormalities. Blood tests taken the week before show a significantly elevated lactate level. An enzyme assay shows pyruvate dehydrogenase deficiency. Which of the following amino acids should the parents be  advised to increase in this patient's diet?

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