Iduronidase Alpha L (IDUa)

MPS1

SPN	O916
HGNC	5391
MGI	96418
PubMed	4993544
UniProt	P35475
Wiki	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.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 heparin and dermatin sulfate within phagocytes, endothelium, smooth muscle cells, neurons, and fibroblasts. Underneath electron microscopy these structure present as laminated structures, Zebra bodies.

Reference

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"p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients."
Clin. Genet. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]