Article
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
Journal of inherited metabolic disease - 1 Jan 2004
Longo N, Fukao T, Singh R, Pasquali M, Barrios R G, Kondo N, Gibson K M
Abstract excerpt
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.
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