Open AccessLysosomal storage disorders with neurological manifestations
Author(s) -
Vikas Munjal,
Maria T. Clarke,
Joshua Vignolles-Jeong,
Jasmine A. Valencia,
Meika Travis,
Lluı́s Samaranch
Publication year - 2022
Publication title -
rare disease and orphan drugs journal
Language(s) - English
Resource type - Journals
ISSN - 2771-2893
DOI - 10.20517/rdodj.2021.05
Subject(s) - enzyme replacement therapy , substrate reduction therapy , medicine , lysosomal storage disease , disease , hematopoietic stem cell transplantation , clinical trial , quality of life (healthcare) , genetic enhancement , lysosomal storage disorders , bioinformatics , intensive care medicine , biology , gene , biochemistry , nursing
Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, progressive, inherited disorders of metabolism. The aberrant metabolic processes often lead to the cellular accumulation of incompletely metabolized macromolecules or their metabolic byproducts. Most of the patients affected by LSD can experience a variety of neurological presentations including, but not limited to, psychiatric complications, seizures, and/or developmental delays. The onset of symptoms can range from birth to adulthood, and disease severity can vary. Since there is significant overlap in the symptomatology of LSDs, diagnosis is typically confirmed through biochemical and molecular assays. There are currently no approved cures for any LSDs; however, in most cases, treatment of symptoms can lead to better outcomes and improvements in quality of life. The use of hematopoietic stem cell transplantation, enzyme replacement or substrate reduction therapy, and viral vector gene transfer is the subject of many ongoing and completed clinical trials. In this mini review, we provide an overview of LSDs with neurological manifestations, describe the current endeavors in alleviating peripheral symptoms and discuss effective therapeutics strategies.