Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

J Inherit Metab Dis. 2006 Feb;29(1):205-6. doi: 10.1007/s10545-006-0188-0.

Abstract

We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Carbon-Carbon Ligases / deficiency*
  • Child, Preschool
  • Glycine / analogs & derivatives
  • Glycine / urine
  • Humans
  • Male
  • Phenotype
  • Stroke / complications*
  • Valerates / urine

Substances

  • Valerates
  • beta-methylcrotonylglycine
  • beta-hydroxyisovaleric acid
  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Glycine