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ALL DEFINITIONS

Maroteaux-Lamy Syndromem, Mucopolysaccharidosis Type VI

Definition

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI, is a rare genetic lysosomal storage disorder characterized by the deficiency of the enzyme arylsulfatase B. This deficiency leads to the accumulation of glycosaminoglycans in various tissues and organs, causing a wide range of symptoms and complications, including skeletal abnormalities, joint stiffness, growth retardation, and heart and respiratory issues.