Iduronidase

Iduronidase is an enzyme involved in the degeneration of glycosaminoglycans such as dermatan sulfate and heparan sulfate. It is found in the lysosomes of cells.

Pathology

Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a lysosomal storage disease, is typed I through VII. Type I is known 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 heparan and dermatan 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.

External links

• GeneReviews/NCBI/NIH/UW entry on Mucopolysaccharidosis Type I
• MeSH Iduronidase