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Test ID: PIPA Pipecolic Acid, Serum

Reporting Name

Pipecolic Acid, S

Useful For

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function

 

Detecting abnormal elevations of pipecolic acid in serum

Specimen Type

Serum


Necessary Information


Patient's age is required.



Specimen Required


Patient Preparation: Fasting 12 hours or more. (Draw infants and small children just before next feeding)

Collection Container/Tube:

Preferred: Red top

Acceptable: Serum gel

Submission Container/Tube: Plastic vial

Specimen Volume: 1.5 mL

Collection Instructions: Spin down within 45 minutes of draw.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Serum Frozen (preferred) 94 days
  Refrigerated  14 days

Reference Values

<6 months: ≤6.0 nmol/mL

6 months-<1 year: ≤5.9 nmol/mL

1-17 years: ≤4.3 nmol/mL

≥18 years: ≤7.4 nmol/mL

Day(s) and Time(s) Performed

Tuesday; 8 a.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PIPA Pipecolic Acid, S In Process

 

Result ID Test Result Name Result LOINC Value
81326 Pipecolic Acid, S 32334-5
29962 Interpretation 59462-2
29964 Reviewed By No LOINC Needed

Clinical Information

Pipecolic acid (PA) is an intermediate of lysine metabolism and is oxidized in the peroxisomes by the enzyme L-pipecolate oxidase. In peroxisome biogenesis disorders (eg, Zellweger syndrome), the activity of this enzyme is lost, resulting in an increase in pipecolic acid levels. In contrast, in peroxisomal disorders involving single enzyme deficiencies such as D-bifunctional protein deficiency, PA is not elevated; therefore PA analysis is useful for differentiating between these 2 groups of disorders.

 

Increased pipecolic acid levels may also be seen in alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine-dependent epilepsy), hyperlysinemia types 1 and 2, and defects in proline metabolism.

 

Theoretically, a defect in L-pipecolate oxidase can exist and several cases of hyperpipecolic acidemia have been reported, but a specific enzyme deficiency has not been described in any of the patients.

Interpretation

Elevated pipecolic acid levels are seen in disorders of peroxisomal biogenesis; normal levels are seen in disorders with loss of a single peroxisomal function.

 

Abnormal levels of pipecolic acid should be interpreted together with the results of other biochemical markers of peroxisomal disorders, such as plasma C22-C26 very long-chain fatty acids, phytanic acid, and pristanic acid (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum); RBC plasmalogens; and bile acid intermediates.

Clinical Reference

1. Gould SJ, Raymond GV, Valle D: Chapter 129: The peroxisome biogenesis disorders. In Scriver's Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill Education. Accessed 06/30/17. Available at www.ommbid.com

2. Wanders RJA, Barth PG, Heymans HAS: Chapter 130: Single peroxisomal enzyme deficiencies. In Scriver's Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill Education. Accessed 06/30/17. Available at www.ommbid.com

3. Peduto A, Baumgartner MR, Verhoeven NM: Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders. Mol Genet Metab 2004 Jul;82(3):224-230

4. Braverman N, Raymond G, Rizzo WB, et al: Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab 2016 Mar;117(3):313-321

Analytic Time

2 days

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical