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Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

  • Case Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication.

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References

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Authors and Affiliations

  1. Service de Maladies du Metabolisme-Pédiatrie-Neurologie-Diabetologie-Endocrinologie, Hôpital Necker Enfants Malades, Paris, France

    H. G. M. Oude Luttikhuis, G. Touati & J. M. Saudubray

  2. Service de Biochimie B, Hôpital Necker Enfants Malades, Paris, France

    D. Rabier

  3. Department of Paediatrics, Erasmus-Medical Centre-Sophia Children's Hospital, Rotterdam

    M. Williams

  4. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands

    C. Jakobs

  5. Hekkeslag 16, 5404 MN, Uden, The Netherlands

    H. G. M. Oude Luttikhuis

Authors
  1. H. G. M. Oude Luttikhuis
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  2. G. Touati
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  3. D. Rabier
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  4. M. Williams
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  5. C. Jakobs
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  6. J. M. Saudubray
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Corresponding author

Correspondence to H. G. M. Oude Luttikhuis.

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Oude Luttikhuis, H.G.M., Touati, G., Rabier, D. et al. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. J Inherit Metab Dis 28, 1136–1138 (2005). https://doi.org/10.1007/s10545-005-4545-1

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  • DOI: https://doi.org/10.1007/s10545-005-4545-1

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