Article
Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency
K. M. Gibson,
K. M. Gibson
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Search for more papers by this author A. S. J. Feigenbaum,
A. S. J. Feigenbaum
Division of Clinical Genetics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada
Search for more papers by this author
K. M. Gibson,
K. M. Gibson
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Search for more papers by this author A. S. J. Feigenbaum,
A. S. J. Feigenbaum
Division of Clinical Genetics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada
Search for more papers by this author
First published: 01 September 1997
No abstract is available for this article.
REFERENCES
- 1Gibson KM, Elpeleg ON, Bennett MJ (1996) β-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. J Inher Metab Dis, 19: 698–699.
- 2Riudor E, Ribes A, Perez-Cerda C et al (1995) Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-coenzyme A thiolase deficiency. J Inher Metab Dis, 18: 748–749.
- 3Sweetman L, Williams JC, Scriver CR, Beaudet A, Sly WS, Valle DV (1995) Branched chain organic acidurias. In: The Metabolic and Molecular Bases of Inherited Disease, 7th edn.. New York: McGraw-Hill, 1387–1422.
