Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis

J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • 3-Hydroxybutyric Acid / urine*
  • Acetoacetates / urine*
  • Acidosis, Lactic / enzymology*
  • Acidosis, Lactic / urine
  • Carbon-Nitrogen Ligases / deficiency*
  • Carboxy-Lyases / metabolism
  • Child
  • Humans
  • Ketosis / enzymology*
  • Ketosis / urine
  • Lactic Acid / urine*
  • Male
  • Methylmalonyl-CoA Decarboxylase
  • Pyruvate Carboxylase / metabolism

Substances

  • Acetoacetates
  • Lactic Acid
  • acetoacetic acid
  • Carboxy-Lyases
  • Carbon-Nitrogen Ligases
  • holocarboxylase synthetases
  • Pyruvate Carboxylase
  • Methylmalonyl-CoA Decarboxylase
  • 3-Hydroxybutyric Acid