Abnormal bone x-rays, such as thickened skull and oval vertebrae
Seizures, mental retardation
Activities of one of the enzymes (listed above in "Alternative Names") may be low in fibroblast skin cells
Urine may have increased heparan sulfate
Abnormal, pathological staining character of white blood cells called metachromasia
Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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