Novel genotype of mevalonic aciduria with fatalities in premature siblings
- 1Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates
- 2Laboratory for Genetic Metabolic Diseases, Department of Pediatrics, Emma Children’s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
- Correspondence to:
Dr Raupp
Department of Paediatrics, Tawam Hospital, PO Box 15258, Al Ain, United Arab Emirates; raupppeterhotmail.com
- Accepted 19 December 2002
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.
