Citation
C. Vallat et al., MAJOR HYPERPIPECOLATAEMIA IN A NORMAL ADULT, Journal of inherited metabolic disease, 19(5), 1996, pp. 624-626
Citations number
4
Categorie Soggetti
Endocrynology & Metabolism","Genetics & Heredity
Journal title
ISSN journal
01418955
Volume
19
Issue
5
Year of publication
1996
Pages
624 - 626
Database
ISI
SICI code
0141-8955(1996)19:5<624:MHIANA>2.0.ZU;2-#
Abstract
We describe the fortuitous discovery of a 44-year-oId man with a very
high hyperpipecolataemia (250 mu mol/L; normal <2.5). This patient has
none of the clinical features seen in peroxisomal diseases, he is a s
trictly normal intelligent adult. A stereochemical study of this pipec
olic acid was performed using D-amino acid oxidase, and identified it
as L-pipecolic acid. We suggest that isolated L-hyperpipecolataemia ma
y be a benign trait.