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J Inherit Metab Dis. 1996;19(5):624-6.

Major hyperpipecolataemia in a normal adult.

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1
Laboratoire de Biochimie Médicale B, Hôpital Saint-Eloi, Montpellier, France.

Abstract

We describe the fortuitous discovery of a 44-year-old man with a very high hyperpipecolataemia (250 mumol/L; normal < 2.5). This patient has none of the clinical features seen in peroxisomal diseases, he is a strictly normal intelligent adult. A stereochemical study of this pipecolic acid was performed using D-amino acid oxidase, and identified it as L-pipecolic acid. We suggest that isolated L-hyperpipecolataemia may be a benign trait.

PMID:
8892018
[Indexed for MEDLINE]
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