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25658 Pyruvic Acid, Blood (PYR)

Pyruvic Acid, Blood (PYR)
Test Code: PYRSO
Synonyms/Keywords
​ETC, Mitochondrial Electron Transport Chain Defects, Mitochondrial Respiratory Chain Disorders, PC, PDH (Pyruvate Dehydrogenase) Deficiency, PDHC (Pyruvate Dehydrogenase Complex), Pyruvate Carboxylase Deficiency, Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase (PDH) Deficiency, Pyruvate Dehydrogenase Complex (PDHC), blood pyruvate
Useful For

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio.

The 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 either elevated or normal L:P ratios. Pyruvic acid levels alone have little clinical utility.

Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Fast at least 4 hours ​Whole Blood ​Special Collection tube containing 2.5mL of 6% perchloric acid provided by Marshfield Labs ​1 mL ​1 mL ​1 mL
Collection Processing Instructions

1) Special collection tube must be pre-chilled prior to draw.

2) Draw enough blood directly into syringe to add exactly 1 mL of blood to the special collection tube (pre-chilled).

3) Once drawn, immediately transfer 1 mL to the pre-chilled tube and shake vigorously to mix.

Specimen Stability Information
Specimen Type Temperature Time​Special Container
​Whole Blood ​Refrigerate ​15 days​PYRUVATE
Rejection Criteria
​Use of any anticoagulant other than in the special collection tube
Interference

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. The determination of pyruvic acid is of diagnostic value when lactic acid is measured and the L:P ratio is established in the same specimen.

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

Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available​
Methodology/Instrumentation
​Mayo Clinic Laboratories Monday, Wednesday
​4-8 days ​Spectrophotometry (SP)
Reference Lab
Test 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 isolated elevated pyruvate is not diagnostic of any inborn error of metabolism, analysis with lactate may suggest an inborn error of metabolism as some present with lactic acidosis or a high lactate-to-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 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, though further confirmatory testing will be required to establish a diagnosis.

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.

Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories

0.08-0.16 mmol/L      

NIH Unit 0.7-1.4 mg/dL

Interpretation

An elevated lactate-to-pyruvate (L:P) ratio may indicate inherited disorders of the respiratory chain complex, tricarboxylic acid cycle disorders and pyruvate carboxylase deficiency. Respiratory chain defects usually result in L:P ratios above 20.

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 if the patient is acutely ill.

Cerebrospinal fluid (CSF) L:P ratio may assist in evaluation of patients with neurologic dysfunction and normal blood L:P ratios. Blood and CSF specimens should be collected at the same time.

Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​84210
Synonyms/Keywords
​ETC, Mitochondrial Electron Transport Chain Defects, Mitochondrial Respiratory Chain Disorders, PC, PDH (Pyruvate Dehydrogenase) Deficiency, PDHC (Pyruvate Dehydrogenase Complex), Pyruvate Carboxylase Deficiency, Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase (PDH) Deficiency, Pyruvate Dehydrogenase Complex (PDHC), blood pyruvate
Ordering Applications
Ordering Application Description
​COM​Pyruvic Acid, Blood (PYR)
​Cerner​Pyruvic Acid, Blood (PYR)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting Required Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Fast at least 4 hours ​Whole Blood ​Special Collection tube containing 2.5mL of 6% perchloric acid provided by Marshfield Labs ​1 mL ​1 mL ​1 mL
Collection Processing

1) Special collection tube must be pre-chilled prior to draw.

2) Draw enough blood directly into syringe to add exactly 1 mL of blood to the special collection tube (pre-chilled).

3) Once drawn, immediately transfer 1 mL to the pre-chilled tube and shake vigorously to mix.

Specimen Stability Information
Specimen Type Temperature Time​Special Container
​Whole Blood ​Refrigerate ​15 days​PYRUVATE
Rejection Criteria
​Use of any anticoagulant other than in the special collection tube
Interference

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. The determination of pyruvic acid is of diagnostic value when lactic acid is measured and the L:P ratio is established in the same specimen.

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

Useful For

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio.

The 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 either elevated or normal L:P ratios. Pyruvic acid levels alone have little clinical utility.

Reference Range Information
Performing Location Reference Range
​Mayo Clinic Laboratories

0.08-0.16 mmol/L      

NIH Unit 0.7-1.4 mg/dL

Interpretation

An elevated lactate-to-pyruvate (L:P) ratio may indicate inherited disorders of the respiratory chain complex, tricarboxylic acid cycle disorders and pyruvate carboxylase deficiency. Respiratory chain defects usually result in L:P ratios above 20.

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 if the patient is acutely ill.

Cerebrospinal fluid (CSF) L:P ratio may assist in evaluation of patients with neurologic dysfunction and normal blood L:P ratios. Blood and CSF specimens should be collected at the same time.

For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Report Available​
Methodology/Instrumentation
​Mayo Clinic Laboratories Monday, Wednesday
​4-8 days ​Spectrophotometry (SP)
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​84210
For most current information refer to the Marshfield Laboratory online reference manual.