Novel genotype of mevalonic aciduria with fatalities in premature siblings.
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.
Raupp
P
P
Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates. raupppeter@hotmail.com
Varady
E
E
Duran
M
M
Wanders
R J A
RJ
Waterham
H R
HR
Houten
S M
SM
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*
D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid