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    Article

    Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

    Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, includi...

    Hideo Sasai, Yuka Aoyama, Hiroki Otsuka… in Journal of Inherited Metabolic Disease (2017)

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    Article

    Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

    Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were iden...

    Khanh Ngoc Nguyen, Elsayed Abdelkreem… in Journal of Inherited Metabolic Disease (2017)

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    Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency

    Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indi...

    Elsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave… in JIMD Reports, Volume 35 (2017)