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All Diseases > Maroteaux-Lamy syndrome
Maroteaux-Lamy syndrome (MPS VI)
Alternative Names: Arylsulfatase-B Deficiency; Mucopolysaccharidosis Type VI (MPS 6; MPS Type VI); Polydystrophic Dwarfism
Disease Category: Lysosomal Diseases
A rare, inherited, lysosomal disorder, caused by a missing or abnormal enzyme that cannot break down glycosaminoglycans (GAGs, complex sugar molecules with amino groups that are critical components of connective tissues). Symptoms manifest during early childhood, including organ enlargement, inflammation, scarring, and atrophy of many tissues, skeletal abnormalities, cardiac and respiratory complications, carpal tunnel syndrome, spinal stenosis (a narrowing of the spinal canal containing the spinal cord), vision and hearing loss, and hernias (intestinal protrusions in the abdomen).