β-Glucuronidase deficiency mucopolysaccharidosis

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Abstract
Skin fibroblasts were established from a 3 yr old male with .beta.-glucuronidase deficiency. Clinical features in this patient included short stature, mental retardation, hepatosplenomegaly, Hurler-like skeletal changes and frequent symptomatic pulmonary infections. Laboratory findings included mild mucopolysacchariduria, granular inclusions in leukocytes and deficiency of .beta.-glucuronidase in leukocytes, serum, urine and cultured fibroblasts. Methods for enzymatic diagnosis were presented. Abnormal accumulation of 35S-mucopolysaccharides in fibroblasts cultured from this patient and correction of this biochemical abnormality by the addition of partially purified bovine .beta.-glucuronidase to the cell culture medium were demonstrated. Purified human .beta.-glucuronidase is also corrective. Human .beta.-glucuronidase preparations varied considerably in corrective potency depending on the organ source from which the human enzyme was purified.

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