Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
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.
Peduto
Antonella
A
Department of Pediatrics, University of Turin, Italy.
Baumgartner
Matthias R
MR
Verhoeven
Nanda M
NM
Rabier
Daniel
D
Spada
Marco
M
Nassogne
Marie-Cecile
MC
Poll-The
Bwee-Tien T
BT
Bonetti
Giovanni
G
Jakobs
Cornelis
C
Saudubray
Jean-Marie
JM
D000293:Adolescent; D000328:Adult; D001647:Bile Acids and Salts / Q000097:blood; D002845:Chromatography; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005602:France; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D007558:Italy; D008099:Liver / Q000473:pathology; D008297:Male; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D020675:Peroxisomes / Q000378:metabolism* / Q000473:pathology; D010831:Phytanic Acid / Q000097:blood; D010875:Pipecolic Acids
D001647:Bile Acids and Salts; D005227:Fatty Acids; D010875:Pipecolic Acids; D010831:Phytanic Acid; C002844:pristanic acid; C031345:pipecolic acid