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Related Experiment Videos

Major hyperpipecolataemia in a normal adult

C Vallat1, S Denis, H Bellet

  • 1Laboratoire de Biochimie Médicale B, Hôpital Saint-Eloi, Montpellier, France.

Journal of Inherited Metabolic Disease
|January 1, 1996
PubMed
Summary

A man was found to have very high L-pipecolic acid levels but no symptoms of peroxisomal disease. This suggests isolated L-hyperpipecolataemia might be a harmless genetic trait.

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Area of Science:

  • Biochemistry
  • Human Genetics
  • Metabolic Disorders

Background:

  • Peroxisomal diseases are a group of genetic disorders.
  • Hyperpipecolataemia is a condition characterized by elevated levels of pipecolic acid.
  • Elevated pipecolic acid is often associated with peroxisomal disorders.

Observation:

  • A 44-year-old adult male presented with exceptionally high L-pipecolic acid levels (250 mumol/L).
  • The patient exhibited no clinical signs or symptoms associated with peroxisomal diseases.
  • He maintained normal intelligence and overall health.

Findings:

  • Stereochemical analysis confirmed the presence of L-pipecolic acid using D-amino acid oxidase.
  • The patient's condition was identified as isolated L-hyperpipecolataemia.

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  • No other metabolic abnormalities or clinical manifestations were observed.

    • Implications:

    • Isolated L-hyperpipecolataemia may represent a benign genetic trait in adults.
    • This finding challenges the direct association between high L-pipecolic acid and severe peroxisomal diseases.
    • Further research is warranted to understand the genetic basis and long-term prognosis of isolated L-hyperpipecolataemia.