Novel genotype of mevalonic aciduria with fatalities in premature siblings

Arch Dis Child Fetal Neonatal Ed. 2004 Jan;89(1):F90-1. doi: 10.1136/fn.89.1.F90.

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.

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Genotype
  • Humans
  • Infant, Newborn
  • Infant, Premature, Diseases / genetics*
  • Infant, Very Low Birth Weight / physiology*
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Mevalonic Acid / urine*
  • Mutation / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / genetics*

Substances

  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase
  • Mevalonic Acid