Sialic acid storage disorders: observations on clinical and biochemical variation.
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.
Mancini
G M
GM
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
Verheijen
F W
FW
Beerens
C E
CE
Renlund
M
M
Aula
P
P
D000328:Adult; D000818:Animals; D001693:Biological Transport, Active; D005387:Finland / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000453:epidemiology / Q000378:metabolism* / Q000473:pathology; D019158:N-Acetylneuraminic Acid; D010641:Phenotype; D011506:Proteins / Q000235:genetics / Q000502:physiology*; D051381:Rats; D012794:Sialic Acids / Q000378:metabolism*
D011506:Proteins; D012794:Sialic Acids; C018589:lysosomal proteins; D019158:N-Acetylneuraminic Acid