肥満と代謝のジャーナル

Hurler Syndrome

It is a type of disorder that ends up in a huge build-up of glycosaminoglycans due to the deficiency of alpha-L iduronidase, an enzyme that is responsible for degradation of mucoplysaccharides in the lysosomes. Symptoms may be visible early in the childhood and death may occur as a result of organ damage. This disease is autosomal recessive in nature.