25603 Pyruvic Acid, CSF (PYRC)

​ETC; Mitochondrial Electron Transport Chain Defects; Mitochondrial Respiratory Chain Disorders; PC; PDH (Pyruvate Dehydrogenase) Deficiency; PDHC (Pyruvate Dehydrogenase Complex); Pyruvate; Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase (PDH) Deficiency; Pyruvate Dehydrogenase Complex (PDHC); Pyruvate, Spinal Fluid; LP; C PYRCSO

​Pyruvic Acid, CSF

This​ test is useful for investigating possible disorders of mitochondrial metabolism, when used in conjunction with CSF lactate, collected at the same time, to determine the lactate-to-pyruvate ratio.

Evaluating patients with neurologic dysfunction and normal blood lactate-to-pyruvate ratios.

The cerebrospinal fluid lactate:pyruvate (L:P) ratio is considered a helpful (not diagnostic) tool in the evaluation of patients with possible disorders of mitochondrial metabolism, especially in patients with neurologic dysfunction and normal blood L:P ratios. Pyruvic acid levels alone have little clinical utility.

​Correct specimen collection and handling is crucial to achieve reliable results.​

Pyruvic acid levels alone have little clinical utility. Abnormal concentrations of pyruvic acid and lactate-to-pyruvate (L:P) ratios are not diagnostic for a particular disorder but must be interpreted in the context of the patient's clinical presentation and other laboratory studies.

For the L:P ratio, both analytes should be determined using the same specimen.

When comparing blood and cerebrospinal fluid (CSF) L:P ratios, blood and CSF specimens should be collected at the same time.

​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.

This test does not calculate the lactate:pyruvate ratio. To obtain this information, both this test and LASF1 / Lactic Acid, Spinal Fluid must be ordered. The ratio can be calculated from the results obtained from these tests.​

0.06-0.19 mmol/L

A low L:P ratio (disproportionately elevated pyruvic acid) may indicate an inherited disorder of pyruvate metabolism. Defects of the pyruvate dehydrogenase complex result in L:P ratios below 10.

The L:P ratio is characteristically normal in other patients. An artifactually high ratio can be found in acutely ill patients.