beta (beta)-D-glucuronidase deficiency

(redirected from beta b-D-glucuronidase deficiency)

be·ta (β)-D-glu·cu·ron·i·dase de·fi·cien·cy

(bā'tă glū-kyū-ron'i-dās dĕ-fish'ĕn-sē)
A rare deficiency of β-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterized by abnormal mucopolysaccharide metabolism, and leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex.
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