The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis.

[pyruvate dehydrogenase deficiency]

In 27 of 28 children with congenital lactic acidosis , cerebrospinal fluid lactate was higher than venous blood lactate . The mean +/- SEM difference between these variables was 2 .4 +/- 0 .3 mmol /L (P =.0001 ). Girls or patients with pyruvate dehydrogenase deficiency had higher cerebrospinal fluid lactate concentrations than boys or patients with respiratory chain defects or mitochondrial DNA mutations .