Major hyperpipecolataemia in a normal adult

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

doi:https://doi.org/10.1007/BF01799837

Major hyperpipecolataemia in a normal adult

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

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6 Citations (Scopus)

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

Original language	English
Pages (from-to)	624-626
Journal	Journal of Inherited Metabolic Disease
Volume	19
Issue number	5
DOIs	https://doi.org/10.1007/BF01799837
Publication status	Published - 1996

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https://doi.org/10.1007/BF01799837

Cite this

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title = "Major hyperpipecolataemia in a normal adult",

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",

author = "C. Vallat and S. Denis and H. Bellet and C. Jakobs and Wanders, {R. J.} and H. Mion",

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T1 - Major hyperpipecolataemia in a normal adult

AU - Vallat, C.

AU - Denis, S.

AU - Bellet, H.

AU - Jakobs, C.

AU - Wanders, R. J.

AU - Mion, H.

PY - 1996

Y1 - 1996

N2 - 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

AB - 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

U2 - https://doi.org/10.1007/BF01799837

DO - https://doi.org/10.1007/BF01799837

M3 - Article

C2 - 8892018

SN - 0141-8955

VL - 19

SP - 624

EP - 626

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 5

ER -