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An Infant Who Experiences Seizures and Has Lactic Acid Buildup

Question 47

Multiple Choice

An infant who experiences seizures and has lactic acid buildup is shown to have deficient pyruvate dehydrogenase complex (PDHC) activity.  Genetic analysis shows that both the maternal and paternal alleles for all PDHC subunits are normal.  These results could indicate:


A) overexpression of one or more PDHC subunits.
B) impaired ability to synthesize lipoic acid.
C) upregulated acetyl-CoA entry into the Krebs cycle.
D) an unusually low rate of pyruvate fermentation.

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