Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
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.
Longo
N
N
Department of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA. nicola.longo@hsc.utah.edu
Fukao
T
T
Singh
R
R
Pasquali
M
M
Barrios
R G
RG
Kondo
N
N
Gibson
K M
KM
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
D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase