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HelpTest ID: PIPU Pipecolic Acid, Random, Urine
Reporting Name
Pipecolic Acid, UUseful 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
UrineNecessary Information
Patient's age is required.
Specimen Required
Supplies: Plastic, 10-mL urine tube (T068)
Container/Tube: Plastic, 10-mL urine tube
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 |
Special Instructions
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
Thursday
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 US Food and Drug Administration.CPT Code Information
82542
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
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 serum C22-C26 very long-chain fatty acids, phytanic acid, pristanic acid (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum); red blood cell plasmalogens; and bile acid intermediates.
Clinical Reference
1. Gartner J, Rosewich H, Thoms S. The peroxisome biogenesis disorders. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed July 16, 2021. Available at www.ommbid.com
2. Wanders RA, Barth PG, Heymans HA. Single peroxisomal enzyme deficiencies. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed July 16, 2021. Available at www.ommbid.com
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 9 daysMethod Name
Gas Chromatography-Mass Spectrometry (GC-MS)
Testing Algorithm
See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
mml-biochemical