Ontology highlight
ABSTRACT:
SUBMITTER: Dhammi N
PROVIDER: S-EPMC9280792 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Dhammi Navjot N Essakow Jenna J Gallagher Renata R Gaw Cynthia C
SAGE open medical case reports 20220712
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. We describe a case of a 12-month-old infant presenting with severe metabolic acidosis, ketosis, and hyperammonemia, a combination of symptoms suggestive of an inborn error of metabolism. Genetic testing found our patient had a homozygous variant in the <i>OXCT1</i> gene, c.1543A>G (p.Met515Val). This was the first identified c ...[more]