Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
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.
Martin
Rick A
RA
Division of Medical Genetics, Department of Pediatrics, St. Louis Children's Hospital, Washington University, St. Louis, MO 63110, USA. martin_r@kids.wustl.edu
Slaugh
Rachel
R
Natowicz
Marvin
M
Pearlman
Kayla
K
Orvisky
Eduard
E
Krasnewich
Donna
D
Kleta
Robert
R
Huizing
Marjan
M
Gahl
William A
WA
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
D027361:Organic Anion Transporters; D027981:Symporters; C421224:sialic acid transport proteins; D019158:N-Acetylneuraminic Acid