Associated Papers
Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis.
Adachi N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2026
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.
Zheng DJ et al.
Journal of Pediatric Intensive Care, 2018
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
Sasai H et al.
Journal of Inherited Metabolic Disease, 2017
Ketone body metabolism and its defects.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2014
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Shafqat N et al.
Journal of Inherited Metabolic Disease, 2013
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Fukao T et al.
Biochimica Et Biophysica Acta, 2011
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
Fukao T et al.
Journal of Inherited Metabolic Disease, 2010
Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Fukao T et al.
Molecular Genetics and Metabolism, 2007
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
Yamada K et al.
Molecular Genetics and Metabolism, 2007
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.
Fukao T et al.
Pediatric Research, 2004
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