Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a lysosomal storage disease, is typed I through VII. Type I is know as Hurler syndrome and type I,S is known as Scheie syndrome, which has a milder prognosis compared to Hurlers. The glycosaminoglycans accumulate in the lysosomes and cause substantial disease in many different tissues of the body.
The defective alpha-L-iduronidase results in an accumulation of heparin and dermatin sulfate within phagocytes, endothelium, smooth muscle cells, neurons, and fibroblasts. Underneath electron microscopy these structure present as laminated structures, Zebra bodies.
Prenatal diagnosis of this enzyme deficiency is possible.
