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Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

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Journal of Inherited Metabolic Disease

Abstract

Summary: 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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REFERENCES

  • Berry GT, Fukao T, Mitchell GA, et al (2001) Neonatal hypoglycemia in severe succinyl-CoA:3-ketoacid CoA transferase (SCOT) defficiency. J InheritMet ab Dis 24: 587–595.

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  • Mitchell GA, Fukao T (2001) Inborn errors of ketone body catabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. TheMetabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2327–2356.

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Author notes

  1. N. Longo

    Present address: Medical Genetics/Pediatrics, University of Utah, 2C412 SOM, 50 N, Medical Drive, Salt Lake City, UT, 84132, USA. E-mail

Authors and Affiliations

  1. Departments of Pediatrics and Pathology, University of Utah, Salt Lake City, Utah, USA

    N. Longo & T. Fukao

  2. Department of Genetics, Emory University, Atlanta, Georgia, USA

    R. Singh

  3. Medical Genetics/Pediatrics, University of Utah, 2C412 SOM, 50 N, Medical Drive, Salt Lake City, UT, 84132, USA. E-mail

    M. Pasquali

  4. Nefrologia Pediatrica, Hospital de Especialidades Pediatricas, Panamá, Rep. Panamá

    R. G. Barrios

  5. Gifu University School of Medicine, Gifu, Japan

    N. Kondo

  6. Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA

    K. M. Gibson

Authors
  1. N. Longo
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  2. T. Fukao
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  3. R. Singh
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  4. M. Pasquali
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  5. R. G. Barrios
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  6. N. Kondo
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  7. K. M. Gibson
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Longo, N., Fukao, T., Singh, R. et al. Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. J Inherit Metab Dis 27, 691–692 (2004). https://doi.org/10.1023/B:BOLI.0000043023.57321.18

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  • DOI: https://doi.org/10.1023/B:BOLI.0000043023.57321.18

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