Beta-Glucuronidase Deficiency (Mucopolysaccharidosis VII; MPS VII) &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; &n 656b16g bsp; 142
General: Autosomal recessive disorder associated with enzyme deficiency of β-glucuronidase; disorder combines clinical and biochemical features of the Morquio and Sanfilippo syndromes.
Ocular: Clouding of the cornea.
Clinical: Dwarfism; hepatosplenomegaly; skeletal deformity; mental retardation; hernias; unusual facies; delayed psychomotor development; frequent symptomatic pulmonary infections.
Beaudet AL, et al. Beta-glucuronidase deficiency (mucopolysaccharidosis type VII). Birth Defects 1974; 10:246-250.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Sly WS, et al. P-glucuronidase deficiency: mucopolysaccharidosis. Birth Defects
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