RT Book, Section A1 Aula, Pertti A1 Aula, Nina A1 Gahl, William A. A2 Valle, David L. A2 Antonarakis, Stylianos A2 Ballabio, Andrea A2 Beaudet, Arthur L. A2 Mitchell, Grant A. SR Print(0) ID 1181474128 T1 Recent Developments in Disorders of Free Sialic Acid Storage T2 The Online Metabolic and Molecular Bases of Inherited Disease YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9780071459969 LK ommbid.mhmedical.com/content.aspx?aid=1181474128 RD 2024/11/10 AB Important new data on free sialic acid storage diseases have emerged in the past few years. A number of new cases, illustrating both phenotypic variability and new mutations of the SLC17A5 (formerly AST) gene, have allowed a genotype-phenotype correlation to be drawn. Expression studies of the gene product, sialin, in somatic and neuronal cells have shed new light on the molecular mechanisms leading to central nervous system (CNS) manifestations of the disease. Recent work on an animal model for sialic acid storage disease, a sialin-deficient mouse, has revealed possible pathogenetic mechanisms behind free sialic acid storage diseases. In sialin-deficient animals, defective maturation of oligodendrocytic cells leads to apoptotic cell death and consequent decrease in myelin production in the CNS.