Beta-d-glucuronidase deficiency

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Beta-d-glucuronidase deficiency

a rare deficiency of beta-d-glucuronidase; an autosomal recessive disorder with several allelic forms, characterised by abnormal mucopolysaccharide metabolism leading to progressive mental deterioration, splenic and hepatic enlargement, and dysostosis multiplex.

Synonym: mucopolysaccharidase.