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Updated: May 12, 2026

Profiling of Permethylated Mucin O-glycans Using Matrix-assisted Laser Desorption/Ionization Time-of-flight Mass Spectrometry
Published on: June 20, 2025
Mucopolysaccharidoses and other lysosomal storage diseases
Christina Lampe1, Cinzia Maria Bellettato, Nesrin Karabul
1Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg, University of Mainz, Langenbeckstrasse 2, Mainz 55131, Germany. christina.lampe@unimedizin-mainz.de
Abstract:
Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secondary osteoarthritis or hip dysplasia are the alerting symptoms that should induce suspicion of a lysosomal storage disease.
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