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Test Code PIPU Pipecolic Acid, Random, Urine

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Urine


Necessary Information


Patient's age is required.



Specimen Required


Supplies: Urine tubes, 10 mL (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
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

Tuesday

CPT Code Information

82542

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.

Report Available

3 to 9 days

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Testing Algorithm

For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.