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Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

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Journal of Inherited Metabolic Disease

Summary

High concentrations of butyryl/isobutyrylcarnitine (C4-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differentiate the possible underlying defect. Here we report three unrelated cases, two neurologically affected and one asymptomatic, with this abnormal metabolite pattern due either to mutations in the ETHE1 gene or to a short-chain acyl-CoA dehydrogenase (SCAD) defect.

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Authors and Affiliations

  1. Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, Facultad Ciencias, Universidad Autónoma de Madrid, 28049, Madrid, Spain

    B. Merinero, C. Pérez-Cerdá, P. Ruiz Sala, I. Ferrer, M. J. García & M. Ugarte

  2. Servicio de Pediatría, Hospital Ramón y Cajal, Madrid, Spain

    M. Martínez Pardo & A. Belanger-Quintana

  3. Servicio de Pediatría, Hospital Materno Infantil, Málaga, Spain

    J. L. de la Mota

  4. Servicio de Pediatría, Hospital Doce de Octubre, Madrid, Spain

    E. Martin-Hernández

  5. Hôpital Debrousse, Lyon, France

    C. Vianey-Saban

  6. Aarhus University Hospital, Aarhus, Denmark

    C. Bischoff & N. Gregersen

Authors
  1. B. Merinero
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  2. C. Pérez-Cerdá
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  3. P. Ruiz Sala
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  4. I. Ferrer
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  5. M. J. García
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  6. M. Martínez Pardo
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  7. A. Belanger-Quintana
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  8. J. L. de la Mota
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  9. E. Martin-Hernández
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  10. C. Vianey-Saban
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  11. C. Bischoff
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  12. N. Gregersen
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  13. M. Ugarte
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Corresponding author

Correspondence to M. Ugarte.

Additional information

Communicating editor: Piero Rinaldo

Electronic supplementary material

10545_2006_ESM_342.pdf

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

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Merinero, B., Pérez-Cerdá, C., Ruiz Sala, P. et al. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J Inherit Metab Dis 29, 685 (2006). https://doi.org/10.1007/s10545-006-0342-8

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  • DOI: https://doi.org/10.1007/s10545-006-0342-8

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