title: Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.
abstract: Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy in the second. Both infants excreted relatively low amounts of mevalonic acid intermittently.
authors.affiliation: Department of Paediatrics, Children's Hospital of Western Ontario, Western University London, Ontario Canada. Chitra.Prasad@lhsc.on.ca
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.forename: Marina I
authors.initials: MI
authors.lastname: Salvadori
authors.forename: C A
authors.initials: CA
authors.lastname: Rupar
mesh_terms: D017809:Fatal Outcome; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008798:Mevalonic Acid / Q000378:metabolism; D009154:Mutation; D010641:Phenotype
chemical_list: D008798:Mevalonic Acid