N-acetylgalactosamine-4-sulfatase (Arylsulfatase B) (ARSB)

N-acetylgalactosamine-4-sulfatase, commonly known as Arylsulfatase B (ARSB), is a lysosomal enzyme essential for the catabolism of glycosaminoglycans, specifically dermatan sulfate and chondroitin 4-sulfate [2, 4]. It functions by removing the 4-sulfate group from N-acetylgalactosamine residues at the non-reducing ends of these sugar chains [8, 10]. A genetic deficiency in this enzyme leads to Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, a lysosomal storage disorder characterized by the systemic accumulation of undegraded glycosaminoglycans [4, 9]. This accumulation results in progressive multi-organ dysfunction, including skeletal deformities, hepatosplenomegaly, and respiratory issues [9]. Beyond its role in metabolic disease, ARSB has been identified as a potential tumor suppressor and regulator of cell signaling pathways such as Wnt/beta-catenin and PI3K/AKT [1, 2]. Therapeutic intervention primarily involves enzyme replacement therapy with recombinant human ARSB (galsulfase), which aims to reduce glycosaminoglycan levels and alleviate clinical symptoms [4, 9]. Recent research also explores its potential in oncology, where it may modulate immune checkpoint proteins like PD-L1 [11, 14]. The enzyme is also being investigated for its role in other conditions like cystic fibrosis and atherosclerosis [6].

Other names

Arylsulfatase BARSBASBGalsulfaseN-acetylgalactosamine-4-sulfate 4-sulfohydrolaseMaroteaux-Lamy corrective factor

Enzyme replacement therapy (ERT) using recombinant human N-acetylgalactosamine-4-sulfatase (galsulfase) restores the enzymatic activity required to hydrolyze sulfate groups from dermatan sulfate and chondroitin 4-sulfate, thereby reducing the systemic accumulation of these glycosaminoglycans in lysosomes [4, 9].