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Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

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Journal of Inherited Metabolic Disease

Summary

We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.

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References

  • Baumgartner MR, Almashanu S, Suormala T, et al (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 107: 495–504.

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Authors and Affiliations

  1. Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil

    L. Pinto, P. Zen, R. Rosa, G. Paskulin, A. Perla, L. Barea & C. Graziadio

  2. Division of Metabolism and Molecular Pediatrics, University Children’s Hospital, Zurich

    M. R. Baumgartner & M. F. Dantas

  3. Metabolic Unit, University Children’s Hospital, Basel, Switzerland

    B. Fowler

  4. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil

    R. Giugliani, C. Vargas & M. Wajner

Authors
  1. L. Pinto
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  2. P. Zen
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  3. R. Rosa
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  4. G. Paskulin
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  5. A. Perla
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  6. L. Barea
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  7. M. R. Baumgartner
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  8. M. F. Dantas
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  9. B. Fowler
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  10. R. Giugliani
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  11. C. Vargas
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  12. M. Wajner
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  13. C. Graziadio
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Corresponding author

Correspondence to C. Graziadio.

Additional information

Communicating editor: Michael Gibson

Competing interests: None declared

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Pinto, L., Zen, P., Rosa, R. et al. Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke. J Inherit Metab Dis 29, 205–206 (2006). https://doi.org/10.1007/s10545-006-0188-0

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  • DOI: https://doi.org/10.1007/s10545-006-0188-0

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