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Article

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Biochimica et biophysica acta - 1 May 2011

Fukao Toshiyuki, Sass Jörn Oliver, Kursula Petri, Thimm Eva, Wendel Udo, Ficicioglu Can, Monastiri Kamel, Guffon Nathalie, Barić Ivo, Zabot Marie-Therese, Kondo Naomi

Abstract excerpt

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis. We report clinical and molecular analyses of 5 patients with SCOT deficiency. Patients GS07, GS13, and GS14 are homozygotes of S405P, L327P, and R468C, respectively. GS17 and GS18 are compound heterozygotes for S226N and A215V, and V404F and E273X, respectively. These mutations...

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PMID: 21296660
DOI: 10.1016/j.bbadis.2011.01.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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