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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
Pipecolic acid is not detected by conventional organic acid analysis.
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)