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Pipecolic acidemia

Orpha number ORPHA34
Synonym(s) Hyperpipecolatemia
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS
  • C0268537
  • C0282526
MeSH
  • D018901
MedDRA -
SNOMED CT
  • 13306007
  • 88469006

Summary

Pipecolicacidemia formerly described patients with accumulated pipecolic acid in the blood and/or urine. Pipecolic acid is an intermediate compound in the lysine metabolism that is synthethised by the pipecolic oxidase in peroxysomes. Recent findings show that the vast majority of pipecolicacidemias are actually due to general peroxysome storage disorders. However a few exceptional patients have isolated cases of pipecolicacidemia combined with intellectual deficit, hypotonia, or Joubert's syndrome. There is no specific treatment.

Expert reviewer(s)

  • Pr Jean-Marie SAUDUBRAY

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