Mitochondrial disease
Gene: OXCT1
A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.Created: 29 Jul 2020, 11:41 a.m. | Last Modified: 29 Jul 2020, 11:41 a.m.
Panel Version: 0.3575
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Publications
A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 6 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Publications
Gene: oxct1 has been classified as Green List (High Evidence).
Gene: oxct1 has been classified as Green List (High Evidence).
gene: OXCT1 was added gene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Review for gene: OXCT1 was set to GREEN