AB076. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis

BACKGROUND: Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol OXCT1) deficiency is an autosomal recessive disorder of ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy. More than 30 patients with this disorder have been reported and to our knowledge, t...

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Détails bibliographiques
Publié dans:Ann Transl Med
Auteurs principaux: Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Naiki, Yasuhiro, Kubota, Mitsuru, Sekine, Yuji, Itoh, Masatsune, Nakama, Mina, Ohnishi, Hidenori, Fujiki, Ryoji, Ohara, Osamu, Fukao, Toshiyuki
Format: Artigo
Langue:Inglês
Publié: AME Publishing Company 2017
Sujets:
Newborn Screening, Inborn Errors of Metabolism
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641759/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s076
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