Pipecolic Acid, Random, Urine
Use
Measurement of pipecolic acid in urine is useful to differentiate peroxisomal biogenesis disorders (e.g., Zellweger syndrome) from peroxisomal single enzyme deficiencies. Elevated levels may also be observed in hyperpipecolic acidemia, alpha-aminoadipic semialdehyde dehydrogenase deficiency, hyperlysinemia types 1 and 2, and proline metabolism defects. Results should be interpreted alongside other markers of peroxisomal disorders such as plasma C22–C26 very long–chain fatty acids, phytanic acid, pristanic acid, red blood cell plasmalogens, and bile acid intermediates. Pipecolic acid is not detected in conventional organic acid screening of urine.
Special Instructions
A Biochemical Genetics Test Request form (T798) must be completed, printed, and sent with the specimen when not ordering electronically. Refer to the Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm as needed.
Limitations
Vigabatrin and methylmalonic acid interfere with pipecolic acid measurement. All specimens will be evaluated by Mayo Clinic Laboratories for test suitability. Pipecolic acid is not detected by conventional organic acid analysis of urine.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 33659-4
- 33659-4
- 59462-2
- 18771-6
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
5 mL
Minimum Volume
2 mL
Container
Plastic, 10‑mL urine tube
Collection Instructions
Collect a random urine specimen; no preservative.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | 94 days |