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Clinical and biochemical expression of a unique mucopolysaccharidosis
Author(s) -
O'Brien John S.,
Nyhan William L.,
Shear Carol,
Schmidt Louise,
Veath M. Lois
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb02269.x
Subject(s) - mucopolysaccharidosis , glycosaminoglycan , hunter syndrome , dermatan sulfate , mucolipidosis , autosomal recessive inheritance , cornea , biology , endocrinology , chemistry , medicine , pathology , microbiology and biotechnology , heparan sulfate , biochemistry , gene , enzyme , neuroscience
A boy who presented with painful joints leading to contractures was found to have a mucopolysaccharidosis not previously described. He had severe dysostosis multiplex of the long bones but nearly normal intellectual development and no involvement of the cornea. Lysosomal storage vacuoles were noted in dermal endothelial cells; these were similar to those seen in the genetic rnucopolysaccharidoses. Mucopolysacchariduria was not excessive in amount but it was distinctly abnormal in pattern and his excretion of dermatan sulfate resembled that found in the Hunter and Hurler syndromes. The activities of the lysosomal hydrolases in cultured fibroblasts were normal or increased. The degradation of accumulated 35 S‐mucopolysaccharide in fibroblasts in culture was typical of a mucopolysaccharidosis. His mother accumulated 35 S‐mucopolysaccharides in fibroblasts, suggesting an X‐linked inheritance of the disorder.