Clinical Information

Pyruvic acid, an intermediate metabolite, plays an important role in linking carbohydrate and amino acid metabolism to the tricarboxylic acid cycle, the fatty acid beta-oxidation pathway, and the mitochondrial respiratory chain complex. Though pyruvate is not diagnostic in itself, analysis with lactate has diagnostic value as many inborn errors of metabolism present with laboratory findings that include lactic acidosis and/or a high lactate:pyruvate (L:P) ratio.

The L:P ratio is elevated in several, but not all, mitochondrial respiratory chain disorders. Mitochondrial disorders vary widely in presentation and age of onset. Many mitochondrial disorders have neurologic and myopathic features and may involve multiple organ systems. Determination of lactate, pyruvate, and the L:P ratio in cerebrospinal fluid is helpful in directing attention toward a possible mitochondrial disorder in cases with predominantly neurologic dysfunction and normal blood lactate levels.

A low L:P ratio is observed in inherited disorders of pyruvate metabolism including pyruvate dehydrogenase complex (PDHC) deficiency. Clinical presentation of PDHC deficiency can range from fatal congenital lactic acidosis to relatively mild ataxia or neuropathy. The most common features in infants and children with PDHC deficiency are delayed development and hypotonia. Seizures and ataxia are also frequent features. Other manifestations can include congenital brain malformations, degenerative changes including Leigh disease, and facial dysmorphism.