| Autor: |
Schwartz, I., Silva, L. R., Leistner, S., Todeschini, L. A., Burin, M. G., Pina-Neto, J. M., Islam, R. M., Shah, G. N., Sly, W. S., Giugliani, R. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Aug2003, Vol. 64 Issue 2, p172-175, 4p |
| Abstrakt: |
Mucopolysaccharidosis (MPS) VII or Sly syndrome, caused by deficiency of the b-glucuronidase enzyme (GUSB), is a rare form of MPS. As is true for several other lysosomal storage disorders, patients with MPS VII show wide clinical variability, with severe, intermediate and attenuated presentations. Forty-one different disease-causing mutations have been identified in patients from Japan, Europe, the U.S., Northern Africa, Kuwait, India, Mexico and Chile. Although L176F is the most common mutation in the GUSB gene, accounting for approximately 20% of the mutant alleles, few L176F patients have been described in the literature. Though rare, MPS VII should be investigated in patients with clinical and radiological signs of a lysosomal storage disease. |
| Databáze: |
Complementary Index |
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