Molecular basis of human β-glucuronidase deficiency

β-glucuronidase deficiency is a genetic disorder inherited as an autosomal recessive trait. It is due to the presence of an inactivated form of lysosomal acid hydrolase β-glucuronidase, which causes the accumulation of undegraded glycosaminoglycans in lysosomes and produces the mucopolysaccharidosis type VII disorcler (MPS VII). Here we analysed several patients with MPS VII from the molecular level and have for the first time identified a mutation that gives rise to an inactivated form in a patient by cDNA cloning.