Pfaundler-Hurler disease

Pfaundler-Hurler disease, or mucopolysaccharidosis gargoylism also called, is a hereditary disease characterized by mental retardation, amaurosis (blindness), deafness, impaired development of the skeleton that causes dwarfism tarnish. Pfaundler-Hurler disease is due to disturbances in the metabolism of phosphatides and accumulation of mucopolysaccharides in the absence of a lysosomal enzyme (alpha-L iduronidase), which is responsible for the degradation of mucopolysaccharides in the lysosomes of cells. Treatment: Application of the missing enzyme, bone marrow transplantation and cord blood.