MUCOPOLYSACCHARIDOSES

MUCOPOLYSACCHARIDOSES

In this group of disorders mucopolysaccharides are not degraded to sugar due to congenital deficiency of enzymes and are then deposited intracellularly. Mucopolysaccharides are excreted in the urin.Eight types are known of which 3 are briefly described here.Type 1 and 2 are generally called ”Gargoylism”.

Deficiency of a-l-iduronidase required for degradation of heparan and dermatan sulfate.It is inherited as autosomal recessive.