Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I

J Pediatr. 1989 Jun;114(6):1004-6. doi: 10.1016/s0022-3476(89)80450-0.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors* / drug therapy
  • Amino Acid Metabolism, Inborn Errors* / metabolism
  • Brain / growth & development*
  • Carnitine / blood
  • Carnitine / therapeutic use
  • Female
  • Glutarates / urine*
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Infant, Newborn
  • Oxidoreductases / deficiency
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Riboflavin / therapeutic use

Substances

  • Glutarates
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid
  • Carnitine
  • Riboflavin