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Mental retardation in a patient with Maroteaux‐Lamy
Author(s) -
Vestermark S.,
Tønnesen T.,
Andersen M. Schultz,
Güttler F.
Publication year - 1987
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.1399-0004.1987.tb02779.x
Subject(s) - pathognomonic , glycosaminoglycan , dermatan sulfate , endocrinology , fibroblast , medicine , urine , chemistry , heparan sulfate , biochemistry , in vitro , disease
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 “SCVincorporation 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.