An 8-Month-Old Boy Is Evaluated for Developmental Delay, Failure to Thrive

An 8-month-old boy is evaluated for developmental delay, failure to thrive, and episodic seizures.  Physical examination shows ophthalmoplegia and hypotonia.  Laboratory studies reveal an elevated serum lactate level.  Further histochemical studies show severely reduced pyruvate dehydrogenase enzyme activity in both freshly isolated peripheral blood lymphocytes and cultured fibroblasts.  Increasing which of the following substances in his diet is most likely to help this patient generate energy without further elevating lactate levels?

A) Alanine
B) Asparagine
C) Galactose
D) Glycerol
E) Lysine
F) Serine

Correct Answer:

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