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Variation in the phenotypic expression of β-glucuronidase deficiency

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
86
Issue
3
Identifiers
DOI: 10.1016/s0022-3476(75)80968-1

Abstract

Deficiency of β-glucuronidase was demonstrated in serum, leukocytes, and cultured skin fibroblasts of two unrelated patients. One patient died at 2 9/12 years with a phenotype consistent with severe mucopolysaccharidosis; the other is 14 years of age and well, except for hypertension and obstructive lesions of large blood vessels. Analysis of urinary mucopolysaccharides revealed impaired degradation of dermatan sulfate and, to a lesser extent, of heparan sulfate. Cultured skin fibroblasts accumulated excess glycosaminoglycans (the tem glycosaminoglycans is synonymous with acid mucopolysaccharides) as indicated by 35SO 4 uptake.

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