Major hyperpipecolataemia in a normal adult.
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.
Laboratoire de Biochimie Médicale B, Hôpital Saint-Eloi, Montpellier, France.
C
C
Vallat
S
S
Denis
H
H
Bellet
C
C
Jakobs
R J
RJ
Wanders
H
H
Mion
D000328:Adult; D006801:Humans; D008239:Lysine / Q000737:chemistry / Q000378:metabolism; D008297:Male; D018901:Peroxisomal Disorders / Q000097:blood* / Q000378:metabolism; D010875:Pipecolic Acids / Q000097:blood* / Q000737:chemistry / Q000652:urine; D013237:Stereoisomerism
D010875:Pipecolic Acids; C031345:pipecolic acid; D008239:Lysine