ABSTRACT
In 1973, W. S. Sly and colleagues reported a patient with what they recognized as a distinct mucopolysaccharidosis in whom the activity of lysosomal β-glucoronidase was deficient. The original patient was characterized by shortness of stature, relatively severe skeletal abnormalities as compared with other mucopolysaccharidoses, and relatively mild impairment of cognitive function. Hydrops fetalis was diagnosed prenatally in a patient who developed hypertrophic cardiomyopathy. Corneal transplantation may be useful in older patients in whom vision is impaired. Specific treatment such as bone marrow transplantation (BMT) was successful in neonatal mice, as contrasted with adult mice with ß-glucuronidase deficiency. Enzyme replacement initiated at birth followed by BMT at five weeks was highly successful in this model. β-Glucuronidase was a key enzyme in the development of current understandings of lysosomal enzyme processing. The measurement of enzyme activity has not correlated well with the degree of severity of phenotype.
