Mental retardation in a patient with Maroteaux‐Lamy
- 1 February 1987
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 31 (2) , 114-117
- https://doi.org/10.1111/j.1399-0004.1987.tb02779.x
Abstract
An 8-year-old boy with Hurler-like traits including severe mental retardation excreted in his urine a pathognomonic amount of dermatan sulfate. Less than 10% residual activity of arylsulfatase B was found in his leucocytes and fibroblasts. Hurler fibroblasts corrected an abnormally high 35SO4-incorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux-Lamy fibroblasts did not. The patient thus has a rare combination of Maroteaux-Lamy and severe mental retardation.Keywords
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