Pyruvic Acid, Quantitative, Cerebral Spinal Fluid

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EGL Genetics will be discontinuing this assay as of 07/01/2017. For any questions or concerns, please contact Customer Service at (470) 378-2200 or a laboratory genetic counselor at eglgc@egl-eurofins.com.

Condition Description

Pyruvate is an important chemical compound in biochemistry.  Pyruvate is involved in energy production through conversion into acetyl-coenzyme A, a primary substrate to the Krebs cycle, is involved in the replenishment of Krebs cycle intermediates and is a precursor for gluconeogensis.  The measurement of blood and CSF pyruvate is useful in evaluating the patient with lactic acidosis. The level of pyruvate in the blood and CSF is a helpful indication of the underlying problem such as a defect in pyruvate carboxylase enzyme or gluconeogenic enzymes.  Pyruvate levels can also be suggestive of a respiratory chain defect or a mitochondrial myopathy.  Pyruvic acid elevations may be seen in many medical conditions. 

Indications

This test is indicated for patients with: elevated lactic acid levels, developmental delay, vomiting, muscle weakness and fatigue, abdominal pain and difficulty in breathing.

Methodology

Lactate dehydrogenase and the coenzyme NADH are used to catalyze the conversion of pyruvate to lactate.  In the presence of excess NADH all pyruvate will be converted to lactate and the reduction of NADH to NAD is directly proportionate to the amount of pyruvate present in the original sample.  The relative absorbance is quantified by spectrophotometry. 

Detection and Reference Range

Detection

Specificity of lactate dehydrogenase has possible interference by various alpha and beta keto and hydroxyl acids.  Some compounds such as malate, glyoxylate, alpha-ketobutyrate and alpha- and beta-hydroxypyruvate and phenylpyruvate act as a substrate for lactate to various degrees. 

Reference Range
Cerebrospinal fluid (0.05-0.21 mmol/L)

Specimen Requirements

Type: Spinal Fluid (CSF)

Specimen Requirements:

Minimum 1ml- See special instructions.

Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.

Special Instructions

1) Collect sample into a chilled sodium heparin or EDTA vacutainer/tube.  Fresh cerebrospinal fluid is stable for only 30 minutes

2) Immediately after draw add exactly 1ml CSF to 2ml of 7 or 8% perchloric acid in an uncoated tube (Perchloric acid kits may be obtained from EGL through client services.  See Supply Request Form under Forms tab of this website.)

3) Let the sample stand for another 10 minutes in an ice bath. 

4) Centrifuge at 1500 x g in a refrigerated centrifuge for 10 minutes.

5) Transfer the supernatant into a new clear uncoated tube, if supernatant is not clear, repeat centrifugation for another 10 minutes.

6) Transfer clear supernatant into a new uncoated transport tube with patient identifiers, cap securely, and keep frozen.

  • Urine organic acids (OA)
  • Amino Acids (AA)
  • Acylcarnitine (AR)
  • Mitochondrial Genome Sequencing (JD)
  • Mitochondrial Genome Deletions: Southern Blot (ML)
  • Mitochondrial Encephalopathy: Lactic acidosis (MELAS) (QA)
  • Chronic Progressive External Opthalmoplegia (QB)
  • Kearns-Sayre syndrome (QB)
  • Leigh Disease (QD)
  • Leber Hereditary Optic Neuropathy (LHON) (QC)
  • Myoclonic Epilepsy with Ragged-Red Fiber (MERFF) (QH)
  • Pearson Marrow- Pancreas syndrome (QB)
  • Retinitis Pigmentosa and Ataxia (NARP) (QK)

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