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Test ID: PIPU Pipecolic Acid, Urine

Reporting Name

Pipecolic Acid, U

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 urine

Specimen Type


Necessary Information

Patient's age is required.

Specimen Required

Supplies: Plastic, 10-mL urine tube (T068)

Container/Tube: Plastic, 10-mL urine tube (T068)

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Frozen (preferred) 94 days
  Refrigerated  14 days

Reference Values

≤31 days: ≤223.8 nmol/mg creatinine

32 days-5 months: ≤123.1 nmol/mg creatinine

6 months-11 months: ≤45.0 nmol/mg creatinine

≥1 year: ≤5.7 nmol/mg creatinine

Day(s) Performed


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


LOINC Code Information

Test ID Test Order Name Order LOINC Value
PIPU Pipecolic Acid, U 33659-4


Result ID Test Result Name Result LOINC Value
81248 Pipecolic Acid, U 33659-4
29952 Interpretation 59462-2
29954 Reviewed By 18771-6

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.


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, 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

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

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

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

Report Available

2 to 31 days

Method Name

Gas Chromatography-Mass Spectrometry (GC-MS)

Testing Algorithm

See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction.


If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen. 

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: