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Case report
Novel genotype of mevalonic aciduria with fatalities in premature siblings
  1. P Raupp1,
  2. E Varady1,
  3. M Duran2,
  4. R J A Wanders2,
  5. H R Waterham2,
  6. S M Houten2
  1. 1Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates
  2. 2Laboratory for Genetic Metabolic Diseases, Department of Pediatrics, Emma Children’s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  1. Correspondence to:
    Dr Raupp
    Department of Paediatrics, Tawam Hospital, PO Box 15258, Al Ain, United Arab Emirates; raupppeterhotmail.com

Abstract

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.

  • very low birthweight infant
  • premature
  • organic aciduria

https://doi.org/10.1136/fn.89.1.F90

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