Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

doi:10.1016/j.ymgme.2017.06.012

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Article

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Molecular genetics and metabolism - 1 Sept 2017

Grünert Sarah Catharina, Schmitt Robert Niklas, Schlatter Sonja Marina, Gemperle-Britschgi Corinne, Balcı Mehmet Cihan, Berg Volker, Çoker Mahmut, Das Anibh M, Demirkol Mübeccel, Derks Terry G J, Gökçay Gülden, Uçar Sema Kalkan, Konstantopoulou Vassiliki, Christoph Korenke G, Lotz-Havla Amelie Sophia, Schlune Andrea, Staufner Christian, Tran Christel, Visser Gepke, Schwab Karl Otfried, Fukao Toshiyuki, Sass Jörn Oliver

Abstract excerpt

2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this disease, we have collected clinical and biochemical data as well as information on ACAT1 mutations...

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Identifiers

PMID: 28689740
DOI: 10.1016/j.ymgme.2017.06.012

Genes

ACAT1

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