Mental retardation in a patient with Maroteaux-Lamy.
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.
D002648:Child; D002803:Chondro-4-Sulfatase / Q000172:deficiency; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology
D002803:Chondro-4-Sulfatase