Major hyperpipecolataemia in a normal adult
- 18 January 1996
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (5) , 624-626
- https://doi.org/10.1007/bf01799837
Abstract
Summary: We describe the fortuitous discovery of a 44‐year‐old man with a very high hyperpipecolataemia (250 µmol/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 usingd‐amino acid oxidase, and identified it asl‐pipecolic acid. We suggest that isolatedl‐hyperpipecolataemia may be a benign trait.Keywords
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