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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Transl Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: AME Publishing Company 2017
Pynciau:
Newborn Screening, Inborn Errors of Metabolism
Mynediad Ar-lein: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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