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Article

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

Journal of inherited metabolic disease - 1 Nov 2017

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

Abstract excerpt

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, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents and siblings have had no apparent ketoacidotic episodes. Over 5 years...

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Source

Identifiers

PMID: 28695376
DOI: 10.1007/s10545-017-0065-z

Genes

OXCT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.PMID 28695376Read ↗

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