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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
In the newborn period, pipecolic acid levels are more likely to be abnormal in urine than in plasma or serum. 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.
See Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction.
Gas Chromatography-Mass Spectrometry (GC-MS)