Research advances on lysosomal storage diseases and the therapeutic replacement enzymes
YANG Ke-qin
CAO Yun-song
MA Lan
YANG Yan
WANG Wei
Abstract：Lysosomal storage disorder(LSD)is a multi-organ dysfunction caused by the functional deficit of lysosomal hydrolases,resulting in their substrate storage in organs.More than 70 LSDs have been reported up to now,involving the deficiency of multiple lysosomal hydrolases.Several kind of LSDs can be treated with approved,disease-specific therapies based on enzyme replacement therapy(ERT),small molecules(substrate reduction therapies and chaperones)therapy and gene therapy,among which the most widely applied therapy is the enzyme replacement therapy,characterized by supplying deficient enzymes through intravenous injection.Now there have been 19 ERT agents for LSD approved by United States FDA.This review aims to give a brief introduction on some common lysosomal storage disorders with the corresponding ERT drugs,and the drugs under development in clinical trials.
Keywords：lysosomal storage disorderenzyme replacement therapyrecombinant proteinbiological agentsglycosylation engineering
Publication Date：2024-12-15
Online Publishing Date：2026-08-14(First online date of this platform, not the publication date of the document)
Pages：6( 2476-2481 )