title: Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.
abstract: Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.
authors.affiliation: Department of Pediatrics, University of California San Diego, La Jolla 92093.
authors.forename: K M
authors.initials: KM
authors.lastname: Gibson
authors.forename: G
authors.initials: G
authors.lastname: Hoffmann
authors.forename: W L
authors.initials: WL
authors.lastname: Nyhan
authors.forename: L
authors.initials: L
authors.lastname: Sweetman
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: R
authors.initials: R
authors.lastname: le Coultre
authors.forename: G P
authors.initials: GP
authors.lastname: Smit
mesh_terms: D002262:Carboxy-Lyases / Q000378:metabolism; D002478:Cells, Cultured; D002524:Cerebellar Ataxia / Q000150:complications*; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D008798:Mevalonic Acid / Q000652:urine*; D009123:Muscle Hypotonia / Q000150:complications*; D010770:Phosphotransferases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor)
chemical_list: D010770:Phosphotransferases; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; D008798:Mevalonic Acid