title: Mevalonic acidemia: first case of Japan.
abstract: Mevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS.
authors.affiliation: Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 590-02, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: M
authors.initials: M
authors.lastname: Nakayama
authors.forename: C
authors.initials: C
authors.lastname: Narahara
authors.forename: H
authors.initials: H
authors.lastname: Kim
authors.forename: M
authors.initials: M
authors.lastname: Fujioka
authors.forename: I
authors.initials: I
authors.lastname: Imada
authors.forename: T
authors.initials: T
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Toda
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008798:Mevalonic Acid / Q000097:blood* / Q000378:metabolism; D010375:Pedigree; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid