A Case of Increased C5-OH Acylcarnitine

Clin Chem. 2016 Sep;62(9):1278-9. doi: 10.1373/clinchem.2016.257600.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acids, Acyclic / urine
  • Carbon-Carbon Ligases / blood
  • Carbon-Carbon Ligases / deficiency*
  • Carnitine / administration & dosage
  • Carnitine / analogs & derivatives*
  • Carnitine / blood
  • Carnitine / therapeutic use
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening / standards
  • Tandem Mass Spectrometry
  • Urea Cycle Disorders, Inborn / blood*
  • Urea Cycle Disorders, Inborn / drug therapy

Substances

  • 3-hydroxyisovalerylcarnitine
  • Acids, Acyclic
  • Carbon-Carbon Ligases
  • Carnitine

Supplementary concepts

  • 3-methylcrotonyl CoA carboxylase 1 deficiency