Major hyperpipecolataemia in a normal adult

J Inherit Metab Dis. 1996;19(5):624-6. doi: 10.1007/BF01799837.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Humans
  • Lysine / chemistry
  • Lysine / metabolism
  • Male
  • Peroxisomal Disorders / blood*
  • Peroxisomal Disorders / metabolism
  • Pipecolic Acids / blood*
  • Pipecolic Acids / chemistry
  • Pipecolic Acids / urine
  • Stereoisomerism

Substances

  • Pipecolic Acids
  • pipecolic acid
  • Lysine