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Tytuł:
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Update in the Mucopolysaccharidoses.
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Autorzy:
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McBride KL; The Center for Cardiovascular Research and the Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital; and the Ohio State University, Columbus, OH; Department of Pediatrics, the Ohio State University, Columbus, OH. Electronic address: .
Flanigan KM; Department of Pediatrics, the Ohio State University, Columbus, OH; Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital; and the Ohio State University, Columbus, OH. Electronic address: .
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Źródło:
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Seminars in pediatric neurology [Semin Pediatr Neurol] 2021 Apr; Vol. 37, pp. 100874. Date of Electronic Publication: 2021 Feb 10.
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Typ publikacji:
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Journal Article; Review
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Język:
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English
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Imprint Name(s):
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Publication: Philadelphia Pa : W.B. Saunders
Original Publication: Philadelphia, PA : W.B. Saunders, c1994-
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MeSH Terms:
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Mucopolysaccharidoses*/diagnosis
Mucopolysaccharidoses*/genetics
Mucopolysaccharidoses*/therapy
Central Nervous System ; Genetic Therapy ; Glycosaminoglycans ; Humans ; Infant, Newborn ; Neonatal Screening
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Substance Nomenclature:
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0 (Glycosaminoglycans)
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Entry Date(s):
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Date Created: 20210424 Date Completed: 20211210 Latest Revision: 20211214
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Update Code:
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20240104
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DOI:
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10.1016/j.spen.2021.100874
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PMID:
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33892850
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The mucopolysaccharidoses (MPS) are a genetically heterogenous group of enzyme deficiencies marked by accumulation of glycosaminoglycans in lysosomes leading to multisystem disease. Although significant therapeutic advances have been made for the MPS disorders, including recombinant enzyme replacement approaches, the neuronopathic features of MPS lack adequate treatment. Gene therapies, including adeno-associated virus vectors targeting the central nervous system, hold significant promise for this group of disorders. Optimal outcomes of all therapies will require early disease identification and treatment, ideally by newborn screening.
(Copyright © 2021. Published by Elsevier Inc.)
