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 Indian patients who manifested with ketoacidotic episodes of variable severity. The patients...

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Détails bibliographiques
Publié dans:JIMD Rep
Auteurs principaux: Abdelkreem, Elsayed, Akella, Radha Rama Devi, Dave, Usha, Sane, Sudhir, Otsuka, Hiroki, Sasai, Hideo, Aoyama, Yuka, Nakama, Mina, Ohnishi, Hidenori, Mahmoud, Shaimaa, Abd El Aal, Mohamed, Fukao, Toshiyuki
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585108/
https://ncbi.nlm.nih.gov/pubmed/27928777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_26
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