Major hyperpipecolataemia in a normal adult

C. Vallat, S. Denis, H. Bellet, C. Jakobs, R. J. Wanders, H. Mion

Research output: Contribution to journalArticleAcademicpeer-review


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
Original languageEnglish
Pages (from-to)624-626
JournalJournal of Inherited Metabolic Disease
Issue number5
Publication statusPublished - 1996

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