The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa

J Inherit Metab Dis. 1997 Nov;20(6):833-4. doi: 10.1023/a:1005388205719.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cells, Cultured
  • Deafness / etiology*
  • Diet
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Hypoglycemia / etiology
  • Oxo-Acid-Lyases / deficiency*
  • Oxo-Acid-Lyases / genetics
  • Retinitis Pigmentosa / etiology*
  • Seizures / etiology

Substances

  • Oxo-Acid-Lyases
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase