beta-d-glucuronidase deficiency

β-d-glu·cu·ron·i·dase de·fi·cien·cy

a rare deficiency of β-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterized by abnormal mucopolysaccharide metabolism leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex. Synonym(s): mucopolysaccharidase