Beta-D-glucuronidase deficiency mucopolysaccharidosis

Abstract

A two year old girl presented with mild facial dysmorphism reminiscent of Hurler disease, moderate mental retardation, and hepatosplenomegaly. Hercorneae were clear. Radiologically, there was moderate dysostosis multiplex. Peripheral granulocytes contained abundant, coarse Alder-Reilly granulations. There was an increased urinary excretion of acid mucopolysaccharides. Determination of lysosomal glycosidases showed a markedly decreased activity of β-D-glucuronidase in cultured fibroblasts, leudocytes, and serum. In the parents, in one grandmother and in one sister, β-D-glucuronidase activity in serum and leucocytes was decreased to between 30 and 50%. The disorder has been classified as mucopolysaccharidosis,type VII. Our results indicate that a reliable diagnosis of the homozygous and heterozygous deficient state can be made by determining β-D-glucuronidase in serum.