title: Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
abstract: Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5. This gene encodes sialin, a lysosomal membrane transporter for sialic acid. Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, St. Louis Children's Hospital, Washington University, St. Louis, MO 63110, USA. martin_r@kids.wustl.edu
authors.forename: Rick A
authors.initials: RA
authors.lastname: Martin
authors.forename: Rachel
authors.initials: R
authors.lastname: Slaugh
authors.forename: Marvin
authors.initials: M
authors.lastname: Natowicz
authors.forename: Kayla
authors.initials: K
authors.lastname: Pearlman
authors.forename: Eduard
authors.initials: E
authors.lastname: Orvisky
authors.forename: Donna
authors.initials: D
authors.lastname: Krasnewich
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D004200:Diseases in Twins; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005808:Genes, Recessive; D006801:Humans; D008954:Models, Biological; D009154:Mutation; D019158:N-Acetylneuraminic Acid / Q000378:metabolism; D027361:Organic Anion Transporters / Q000235:genetics; D010641:Phenotype; D029461:Sialic Acid Storage Disease / Q000235:genetics*; D027981:Symporters / Q000235:genetics; D014430:Twins, Monozygotic; D014481:United States
chemical_list: D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins; D019158:N-Acetylneuraminic Acid