title: Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
abstract: SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. Here we report patient GS15, homozygous for a novel R217X mutation, who had the first apparent ketoacidotic crisis at 8 months of age. Before confirmation of diagnosis, daily dialysis was the only mechanism by which to normalize her persistent metabolic acidosis of unknown aetiology.
authors.affiliation: Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA. nicola.longo@hsc.utah.edu
authors.forename: N
authors.initials: N
authors.lastname: Longo
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: R
authors.initials: R
authors.lastname: Singh
authors.forename: M
authors.initials: M
authors.lastname: Pasquali
authors.forename: R G
authors.initials: RG
authors.lastname: Barrios
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
mesh_terms: D000138:Acidosis / Q000235:genetics; D002675:Child, Preschool; D015256:Coenzyme A-Transferases / Q000172:deficiency* / Q000235:genetics*; D003241:Consanguinity; D003956:Dialysis; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D013997:Time Factors
chemical_list: D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase