|Locus||Chr. 4 p16.3|
Iduronidase (EC 220.127.116.11, L-iduronidase, alpha-L-iduronidase) is an enzyme with the system name glycosaminoglycan alpha-L-iduronohydrolase. This enzyme catalyses the hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.
Its deficiency is associated with mucopolysaccharidoses (MPS). MPS, a type of 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 Hurler's. In this syndrome, 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. Under electron microscopy these structures present as laminated structures called Zebra bodies.
Prenatal diagnosis of this enzyme deficiency is possible.
- Matalon, R., Cifonelli, J.A. and Dorfman, A. (1971). "L-Iduronidase in cultured human fibroblasts and liver". Biochem. Biophys. Res. Commun. 42: 340–345. PMID 4993544.
- Rome, L.H., Garvin, A.J. and Neufeld, E.F. (1978). "Human kidney α-L-iduronidase: purification and characterization". Arch. Biochem. Biophys. 189: 344–353. PMID 30407.
- Srivastava, R.M., Hudson, N., Seymour, F.R. and Weissman, B. (1978). "Preparation of (aryl α-L-idopyranosid)uronic acids". Carbohydr. Res. 60: 315–326.
- GeneReviews/NCBI/NIH/UW entry on Mucopolysaccharidosis Type I
- Iduronidase at the US National Library of Medicine Medical Subject Headings (MeSH)
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