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Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy

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Journal of Inherited Metabolic Disease

Abstract

Summary: We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.

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REFERENCES

  • Clayton PT (2001) Clinical consequences of defects in peroxisomal beta-oxidation. BiochemSocTrans 29 (Pt 2): 298-305.

    Google Scholar 

  • Ferdinandusse S, Denis S, Clayton PT, et al (2000) Mutations in the gene encoding peroxisomal-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nature Genetics 24(2): 188-191.

    Google Scholar 

  • Suzuki Y, Nobuyuki S, Yajima S, et al (1994) Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complement analysis. Am J Hum Genet 54: 36-43.

    Google Scholar 

  • Suzuki Y, Mizue I, Kamei A, et al (2002) Peroxisomal acyl-CoA oxidase deficiency. J Pediatr 140(1): 128-130.

    Google Scholar 

  • Wanders RJA, Barth PG, Heymans HAS (2001) Single peroxisomal enzyme deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3219-3256.

    Google Scholar 

  • Watkins PA, McGuinness MC, Raymond GV, et al (1995) Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann Neurol 30(3): 472-477.

    Google Scholar 

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Authors and Affiliations

  1. Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland

    M. A. Kurian & M. D. King

  2. Department of Paediatric Radiology, The Children's University Hospital, Dublin, Ireland

    S. Ryan

  3. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK

    G. T. N. Besley

  4. Department of Paediatrics and Clinical Chemistry, AMC, University Hospital, Amsterdam, The Netherlands

    R. J. A. Wanders

Authors
  1. M. A. Kurian
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  2. S. Ryan
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  3. G. T. N. Besley
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  4. R. J. A. Wanders
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  5. M. D. King
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Corresponding author

Correspondence to M. D. King.

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Kurian, M.A., Ryan, S., Besley, G.T.N. et al. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy. J Inherit Metab Dis 27, 105–108 (2004). https://doi.org/10.1023/B:BOLI.0000016687.88818.6d

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  • DOI: https://doi.org/10.1023/B:BOLI.0000016687.88818.6d

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