Mental retardation in a patient with Maroteaux‐Lamy
2008
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.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
12
References
17
Citations
NaN
KQI