Acromesomelic dysplasia maroteaux type

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.

Disease Alternative Name

mucopolysaccharidosis type vi
mucopolysaccharidosis vi
maroteaux-lamy syndrome
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