Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders
(2004) Molecular Genetics and Metabolism — Vol. 82, n° 3, p. 224-230 (2004)
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- Peroxisomal disorders include a complex spectrum of diseases, characterized by a high heterogeneity from both the clinical and the biochemical points of view. Specific assays are required for the study of peroxisome metabolism. Among these, pipecolic acid evaluation is considered as a supplementary test. We have established the diagnostic role of pipecolic acid in 30 patients affected by a peroxisomal defect (5 Zellweger syndromes, 10 Infantile Refsum diseases, 1 neonatal adrenoleukodystrophy, 6 patients affected by a peroxisomal biogenesis disorder with unclassified phenotype, 1 case of rhizomelic chondrodysplasia punctata (RCDP), 2 acyl-CoA oxidase deficiencies, 2 bifunctional enzyme deficiencies, 2 Refsum diseases, and 1 β-oxidation deficiency). Pipecolic acid was increased in all generalized peroxisomal disorders, while normal pipecolic acid with abnormal very long chain fatty acid concentrations was strong evidence for a single peroxisomal enzyme deficiency. Unexpectedly, hyperpipecolic acidaemia was found also in a child affected by RCDP and in two patients with Refsum disease. In six patients the suggestion of a peroxisomal disorder was raised by the fortuitous finding of a pipecolic acid peak in amino acid chromatography, routinely performed as a general metabolic screening. For all patients, pipecolic acid proved to be a useful parameter in the biochemical classification of peroxisomal disorders. © 2004 Published by Elsevier Inc.
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Peduto, A., Baumgartner, M. R., Verhoeven, N. M., Rabier, D., Spada, M., Nassogne, M.-C., Poll-The, B.-T. T., Bonetti, G., Jakobs, C., & Saudubray, J.-M. (2004). Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders. Molecular Genetics and Metabolism, 82(3), 224-230. https://doi.org/10.1016/j.ymgme.2004.04.010 (Original work published 2004)