Pipecolic Acid, Serum
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 serum
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Be aware that pipecolic acid levels can be normal in newborns. 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, RBC plasmalogens, and bile acid intermediates.
Measurement of pipecolic acid is a useful diagnostic tool for differentiating between peroxisomal biogenesis disorders (Zellweger spectrum disorders) and peroxisomal disorders caused by single enzyme deficiencies such as X-linked adrenoleukodystrophy (X-ALD).
Results must be interpreted together with the results of other biochemical markers for peroxisomal disorders.
Both urine and plasma are suitable specimens for the detection of pipecolic acid.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Gas Chromatography-Mass Spectrometry (GC-MS)
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Pipecolic Acid, S