beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel

J Inherit Metab Dis. 1996;19(5):698-9. doi: 10.1007/BF01799849.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetyl-CoA C-Acyltransferase / analysis
  • Acetyl-CoA C-Acyltransferase / deficiency*
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Child, Preschool
  • Consanguinity
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Infant
  • Isoleucine / metabolism
  • Israel
  • Ketone Bodies / metabolism

Substances

  • Ketone Bodies
  • Isoleucine
  • Acetyl-CoA C-Acyltransferase