Pipecolic Acid, Serum
Use
Pipecolic acid levels in serum are useful for differentiating between peroxisomal biogenesis disorders (e.g., Zellweger syndrome) and peroxisomal disorders involving a single enzyme deficiency, such as X-linked adrenoleukodystrophy. Elevated pipecolic acid levels may indicate issues in lysine metabolism where this acid acts as an intermediate. This test aids in identifying potential abnormalities in peroxisomal function, a critical component of metabolic assessments for patients suspected of having these disorders.
Special Instructions
Patient must fast for 12 hours prior to the test. Infants and small children should have the specimen collected before their next feeding or meal. The patient's age must be provided when submitting the request for this test. If not ordered electronically, a Biochemical Genetics Test Request form (T798) should accompany the specimen.
Limitations
Newborns' pipecolic acid levels may appear normal even in the presence of peroxisomal biogenesis disorders. Additionally, abnormal results could be due to prematurity or unrelated liver or kidney diseases. Substances like vigabatrin and methylmalonic acid may interfere with pipecolic acid determination, leading to potentially misleading results if not considered during interpretation.
New York Approved
Methodology
Mass Spectrometry (GC-MS)
Biomarkers
LOINC Codes
- 32334-5
- 32334-5
- 18771-6
- 59462-2
Result Turnaround Time
3-9 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1.5 mL
Minimum Volume
1 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into plastic vial. Preferred collection using serum gel tubes, with red top tubes acceptable.
Patient Preparation
Fasting for 12 hours required. Infants and small children should be collected before next feeding/meal.
Storage Instructions
Keep serum frozen, preferred for up to 94 days. Alternatively, it can be kept refrigerated for up to 14 days.
Causes for Rejection
Serum with gross hemolysis, lipemia, or icterus is acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 14 days |
| Frozen | 94 days |