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Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function
Abnormal elevations of pipecolic acid can be detected in either serum or urine
Be aware that levels of pipecolic acid 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.
Gas Chromatography-Mass Spectrometry (GC-MS)