Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement

Dev Med Child Neurol. 2005 Mar;47(3):207-10. doi: 10.1017/s0012162205000381.
No abstract available

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Carnitine / administration & dosage
  • Carnitine / analogs & derivatives*
  • Carnitine / urine
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Developmental Disabilities / diet therapy
  • Developmental Disabilities / enzymology
  • Developmental Disabilities / genetics
  • Diagnosis, Differential
  • Electron-Transferring Flavoproteins / genetics
  • Female
  • Genes, Recessive
  • Genetic Variation
  • Humans
  • Hypoglycemia / diet therapy
  • Hypoglycemia / genetics
  • Hypoglycemia / prevention & control
  • Infant
  • Infant, Newborn
  • Male
  • Malonates / urine
  • Mass Spectrometry
  • Metabolism, Inborn Errors / diet therapy
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics*
  • Neonatal Screening
  • Nervous System Diseases / diet therapy
  • Nervous System Diseases / enzymology
  • Nervous System Diseases / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Prognosis
  • Succinates / urine
  • Sudden Infant Death / etiology

Substances

  • Electron-Transferring Flavoproteins
  • Malonates
  • Succinates
  • butyrylcarnitine
  • ethylmalonic acid
  • Acyl-CoA Dehydrogenase
  • methylsuccinic acid
  • Carnitine