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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Vydáno v:Ann Transl Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: AME Publishing Company 2017
Témata:
Newborn Screening, Inborn Errors of Metabolism
On-line přístup: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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