Article
ARSK-Related Mucopolysaccharidosis Type 10.
American journal of medical genetics. Part A - 1 Dec 2025
Al Fahdi Intisar, Singh Swati, Yadavalli Krishnaveni, Chatti Kiranam, Bhavani Gandham SriLakshmi, Girisha Katta M
Abstract excerpt
Mucopolysaccharidosis type 10 (MPS10) is a recently discovered lysosomal storage disorder caused by biallelic loss of function variants in ARSK. To date, 10 ARSK-related MPS10 patients from six families have been reported, with a median age at presentation of 9.5 years. The affected individuals usually present with progressive hip joint abnormalities. Coarse facial features, genu valgum, and joint abnormalities...
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