Mucopolysaccharidosis type VII

Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. This disorder is characterized by mental retardation, coarse faces, dysostosis multiplex, hepatosplenomegaly, and hydrops fetalis.