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ARSK-Related Mucopolysaccharidosis Type 10.
Intisar Al Fahdi1,2, Swati Singh3, Krishnaveni Yadavalli3,4
1Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University Muscat, Muscat, Oman.
American Journal of Medical Genetics. Part A
|July 31, 2025
Summary
Mucopolysaccharidosis type 10 (MPS10), a rare genetic disorder, is caused by ARSK gene variants. Early diagnosis is crucial as hip abnormalities are common, but neurological issues are absent.
Area of Science:
- Genetics
- Biochemistry
- Rare Diseases
Background:
- Mucopolysaccharidosis type 10 (MPS10) is a recently identified lysosomal storage disorder.
- It is caused by biallelic loss-of-function variants in the ARSK gene.
- Ten patients from six families have been reported, with a median age of 9.5 years at presentation.
Purpose of the Study:
- To provide a comprehensive review of ARSK-related MPS10.
- To consolidate current knowledge on the clinical and radiographic features of MPS10.
- To highlight diagnostic considerations, including biochemical variability.
Main Methods:
- Literature review of reported ARSK-related MPS10 cases.
- Analysis of clinical presentations, radiographic findings, and biochemical data.
- Synthesis of existing knowledge into a comprehensive overview.
Main Results:
- Patients typically present with progressive hip joint abnormalities.
- Variable features include coarse facial features, genu valgum, and joint abnormalities.
- Radiographic findings include platyspondyly, acetabular hypoplasia, and metaphyseal striation.
- Biochemical analysis shows variable dermatan sulfate excretion; normal GAGs do not exclude MPS10.
Conclusions:
- ARSK-related MPS10 is characterized by skeletal abnormalities without neurological or cognitive impairment.
- Variable urinary glycosaminoglycan excretion necessitates considering MPS10 even with normal GAG profiles.
- This review consolidates understanding of ARSK-related MPS10, aiding diagnosis and management.