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Case report
Novel genotype of mevalonic aciduria with fatalities in premature siblings

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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