Journal of Inherited Metabolic Disease

, Volume 19, Issue 5, pp 698–699 | Cite as

β-Ketothiolase (2-methylacetoacetyl-coenzyme a thiolase) deficiency: identification of two patients in israel

  • K. M. Gibson
  • O. N. Elpeleg
  • M. J. Bennett
Case Report


Public Health Internal Medicine Metabolic Disease 


  1. Fukao T, Yamaguchi S, Orii T, Hashimoto T (1995) Molecular basis ofβ-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.Hum Mutat 5: 113–120.Google Scholar
  2. Gibson KM, Lee CF, Kamali V, Sovik O (1992) A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.Clin Chim Acta 205: 127–135.Google Scholar
  3. Sovik O (1993) Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.J Inher Metab Dis 16: 46–54.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • K. M. Gibson
    • 1
  • O. N. Elpeleg
    • 2
  • M. J. Bennett
    • 3
  1. 1.Department of NeurologyUniversity of Texas Southwestern Medical Center and Institute of Metabolic Diseases, Baylor Research Institute and Baylor University Medical CenterDallasUSA
  2. 2.Metabolic Disease Unit, Shaare-Zedek Medical CenterJerusalemIsrael
  3. 3.Department of PathologyUniversity of Texas Southwestern Medical CenterDallasUSA

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