P319: Updating the spectrum of ARSB mutations suspected of causing Maroteaux-Lamy (MPS VI) to enable genetic prevalence estimation and improve diagnosis

Genetics in Medicine Open 2026 Open access

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Authors: Sara L. Pulit, Emanuela Izzo, Sherif Khattab, Robert Power, Rachel Moore, Melissa Spear, Melisa Chuong, Vincent Plagnol, Christian Beetz, Mandy Radefeldt
DOI: 10.1016/j.gimo.2026.103813
Cited by: 0

Abstract

Mucopolysaccharidosis type VI (MPS VI, or Maroteaux-Lamy syndrome) is a rare autosomal recessive lysosomal storage disorder caused by variants in the ARSB gene. The disease has heterogeneous onset and progression and can present as early as age 2-3 years or as late as the second decade of life. Life expectancy is equally variable (approximately 10-30 years old). Common features of MPS VI include skeletal abnormalities, corneal clouding, and reduced pulmonary function.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103813–103813
Publication date
1 January 2026
Language
EN