title: [Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].
abstract: MLD is caused by a deficiency of arylsulfatase A and hence sulfolipids are accumulated in various patient's tissues. Various clinical phenotypes including activator deficiency, pseudodeficiency and MSD. Recently, molecular basis of these disorders have been identified. Clinical phenotype in MLD is well correlated with their genotype. Most common mutation in Caucasian MLD is caused by 609A mutation which produces late infantile MLD. In Japanese, most common mutation is 445A mutation. Essential treatment of MLD is recently carried out by bone marrow transplantation. On the hand, MSD is caused by multiple deficiencies of various sulfatases and hence accumulated various sulfated compounds such as sulfatide and acid mucopolysaccharides. The clinical features have combined characteristics of MLD and mucopolysaccharidosis. The cause of this disorder is recently identified as abnormal modification of various sulfatase.
authors.affiliation: Department of Pediatrics, Tokyo Jikei University.
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
authors.forename: Y
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: T
authors.initials: T
authors.lastname: Tsuda
mesh_terms: D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics / Q000628:therapy; D008247:Lysosomes / Q000201:enzymology; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D013429:Sulfatases / Q000172:deficiency* / Q000235:genetics
chemical_list: D006023:Glycoproteins; C483345:PSAP protein, human; D049231:Saposins; D049128:Sphingolipid Activator Proteins; D013429:Sulfatases; D002553:Cerebroside-Sulfatase