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.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00132 Mucopolysaccharidosis type VII
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
nt06012 Glycosaminoglycan degradation
H00132 Mucopolysaccharidosis type VII
