Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.

Abstract

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 beta-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.

• Authors: Antonella Peduto, Matthias R Baumgartner, Nanda M Verhoeven, Daniel Rabier, Marco Spada, Marie-Cecile Nassogne, Bwee-Tien T Poll-The, Giovanni Bonetti, Cornelis Jakobs, Jean-Marie Saudubray
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 82 Issue 3 Pg. 224-30 (Jul 2004) ISSN: 1096-7192 [Print] United States
• PMID: 15234336 (Publication Type: Case Reports, Comparative Study, Journal Article)

Chemical References

• Bile Acids and Salts
• Fatty Acids
• Pipecolic Acids
• Phytanic Acid
• pristanic acid
• pipecolic acid

Topics

• Adolescent
• Adult
• Bile Acids and Salts (blood)
• Chromatography
• Fatty Acids (blood)
• Female
• France
• Gas Chromatography-Mass Spectrometry
• Humans
• Immunoblotting
• Infant
• Italy
• Liver (pathology)
• Male
• Peroxisomal Disorders (diagnosis)
• Peroxisomes (metabolism, pathology)
• Phytanic Acid (blood)
• Pipecolic Acids