Arylsulfatase B (ARSB) (ARSB)

Arylsulfatase B (ARSB) is a lysosomal enzyme, also known as N-acetylgalactosamine-4-sulfatase, that plays a critical role in the catabolism of glycosaminoglycans (GAGs) (UniProt). It specifically catalyzes the hydrolysis of the 4-sulfate groups from N-acetylgalactosamine-4-sulfate residues in dermatan sulfate and chondroitin 4-sulfate (UniProt, NIH). A deficiency in ARSB activity leads to Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, a progressive lysosomal storage disorder characterized by the systemic accumulation of undegraded GAGs (NIH, BioMarin). This accumulation results in multi-organ dysfunction, including skeletal deformities, cardiac valve disease, and respiratory issues (NIH, BabyDetect). Therapeutic management primarily involves enzyme replacement therapy (ERT) with galsulfase, a recombinant form of human ARSB (FDA, AAP). Galsulfase is internalized by cells via mannose-6-phosphate receptors and targeted to lysosomes to restore enzymatic function and reduce GAG levels, which is typically monitored via urinary GAG excretion (FDA, RxList).

Other names

N-acetylgalactosamine-4-sulfataseASBG4SMPS6ChondroitinsulfataseN-acetylgalactosamine-4-sulfate sulfohydrolase

Enzyme replacement therapy (ERT) involving the administration of recombinant human ARSB, which is internalized via mannose-6-phosphate receptors and trafficked to lysosomes to catabolize accumulated dermatan sulfate and chondroitin 4-sulfate.