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Novel Subtype of Mucopolysaccharidosis Caused by Arylsulfatase K (ARSK) Deficiency

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source: Journal of medical genetics

year: 2021

authors: Verheyen S,Blatterer J,Speicher MR,Bhavani GS,Boons GJ,Ilse MB,Andrae D,Sproß J,Vaz FM,Kircher SG,Posch-Pertl L,Baumgartner D,Lübke T,Shah H,Al Kaissi A,Girisha KM,Plecko B


Mucopolysaccharidoses (MPS) are monogenic metabolic disorders that significantly affect the skeleton. Eleven enzyme defects in the lysosomal degradation of glycosaminoglycans (GAGs) have been assigned to the known MPS subtypes (I-IX). Arylsulfatase K (ARSK) is a recently characterised lysosomal hydrolase involved in GAG degradation that removes the 2-O-sulfate group from 2-sulfoglucuronate. Knockout of in mice was consistent with mild storage pathology, but no human phenotype has yet been described.

organization: Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.

DOI: 10.1136/jmedgenet-2021-108061

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