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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

Keywords

Public Health Internal Medicine Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  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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