3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign

J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / urine
  • Cells, Cultured
  • Diet, Protein-Restricted
  • Fibroblasts / cytology
  • Fibroblasts / enzymology
  • Glutarates / urine
  • Humans
  • Hydro-Lyases / deficiency*
  • Meglutol / analogs & derivatives
  • Meglutol / urine
  • Speech Disorders / etiology*
  • Valerates / urine

Substances

  • Glutarates
  • Valerates
  • beta-hydroxyisovaleric acid
  • 3-methylglutaric acid
  • 3-methylglutaconic acid
  • Meglutol
  • Hydro-Lyases
  • methylglutaconyl-CoA hydratase