Maroteaux-Lamy syndrome

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI or MPS VI, is an inherited lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase B, or ARSB, which is needed to break down glycosaminoglycans, specifically dermatan sulfate and chondroitin sulfate. Without enough ARSB activity, these substances build up inside cell lysosomes, causing progressive symptoms. Unlike most other mucopolysaccharidosis disorders, children with Maroteaux-Lamy syndrome typically have normal intelligence, but they can develop a range of physical complications, including macrocephaly, hydrocephalus, coarse facial features, heart valve disease, an enlarged liver and spleen, and umbilical hernia. It is caused by mutations in the ARSB gene and is inherited in an autosomal recessive pattern. Onset is at birth, with symptoms appearing in early childhood; the condition is lifelong, and heart disease and airway obstruction are its major causes of reduced life expectancy. It falls under endocrinology and is also called polydystrophic dwarfism.