Rare Diseases Symptoms Automatic Extraction

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.

Diseases presenting "congenital lactic acidosis" symptom

  • pyruvate dehydrogenase deficiency

This symptom has already been validated