Sanfilippo syndrome Prevalence and causes

This is an autosomal recessive disorder with four enzymatically different forms, namely types A, B, C and D, all of which are involved with the breakdown pathway of heparan sulphate. Type A is thought to be the most severe and the most common of the four types. All are associated with progressive mental retardation. Type A involves heparan sulphate sulphatase enzyme dysfunction and has been mapped to chromosome 17q25.3.(46) Type B involves N-acetyl-a-D-glucosaminidase and has been mapped on to chromosome 17q21.(47) Type C leads to deficiency of acetyl-CoA-a-glucosaminide- Wacetyltransferase; the locus for this may lie on chromosome 14 or 21.(48> Type D involves W-acetyl-a-D-glucosamine-6-sulphatase deficiency and has been mapped to chromosome 12q14. (49> The reported prevalence of Sanfilippo syndrome has varied from 1 in 25 000 to 1 in 324 617.

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