© 2004 Archives of Disease in Childhood Fetal and Neonatal Edition
CASE REPORT
Novel genotype of mevalonic aciduria with fatalities in premature siblings
1 Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates
2 Laboratory 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:
Correspondence to:
Dr Raupp
Department of Paediatrics, Tawam Hospital, PO Box 15258, Al Ain, United Arab Emirates; raupppeter{at}hotmail.com
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.
Keywords: very low birthweight infant; premature; organic aciduria
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