Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia

J Inherit Metab Dis. 1980;3(3):93. doi: 10.1007/BF02312537.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Carbon-Carbon Ligases*
  • Female
  • Glycine / blood
  • Glycine / urine
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / enzymology*
  • Ketosis / blood
  • Leukocytes / enzymology*
  • Ligases / deficiency*
  • Propionates / blood
  • Propionates / urine

Substances

  • Propionates
  • Ligases
  • Carbon-Carbon Ligases
  • propionyl CoA carboxylase (ATP-hydrolyzing)
  • Glycine