A 10 month old female infant was evaluated for severe lactic acidosis. Clinically she was well nourished and had a substantial amount of adipose tissue despite recurrent episodes of acidosis. Her psychomotor development was retarded, her movements were dystonic and generalized seizures punctuated her course.
Metabolic abnormalities included elevated blood concentrations of lactate, p…
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The clinical and biochemical implications of pyruvate carboxylase deficiency.
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