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  • Title: Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.
    Author: Longo N, Fukao T, Singh R, Pasquali M, Barrios RG, Kondo N, Gibson KM.
    Journal: J Inherit Metab Dis; 2004; 27(5):691-2. PubMed ID: 15669687.
    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.
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