title: 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.
authors.affiliation: Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates. raupppeter@hotmail.com
authors.forename: P
authors.initials: P
authors.lastname: Raupp
authors.forename: E
authors.initials: E
authors.lastname: Varady
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
authors.forename: S M
authors.initials: SM
authors.lastname: Houten
mesh_terms: D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics*; D019102:Infant, Very Low Birth Weight / Q000502:physiology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008798:Mevalonic Acid / Q000652:urine*; D009154:Mutation / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid