Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia

J Inherit Metab Dis. 1997 Jul;20(3):379-82. doi: 10.1023/a:1005338230321.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amidohydrolases / antagonists & inhibitors*
  • Amidohydrolases / metabolism
  • Chromatography, High Pressure Liquid
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Lipid Metabolism, Inborn Errors / genetics
  • Liver / drug effects
  • Liver / enzymology
  • Male
  • Nervous System Diseases / enzymology*
  • Nervous System Diseases / genetics
  • Propionates / blood
  • Propionates / metabolism
  • Propionates / pharmacology*
  • Pyrimidines / metabolism

Substances

  • Propionates
  • Pyrimidines
  • Amidohydrolases
  • beta-ureidopropionase