Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate.
case_report · Level V
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Abstract
A comatose male newborn infant with congenital lactic acidosis caused by pyruvate decarboxylase deficiency was treated with dichloroacetate (DCA), which stimulated an 88% drop in serum lactate concentration and reversed his coma. The response to DCA was temporary and the lactic acidosis worsened until his death, but DCA may confer more lasting benefit in less severely affected infants.
Medical subject headings
- Acidosis, Lactic
- Dichloroacetic Acid
- Pyruvate Decarboxylase
- Pyruvate Metabolism, Inborn Errors