EC Number   |
General Information |
Reference |
|---|
   3.2.1.76 | evolution |
the enzyme belongs to glycoside hydrolase family 39, GH39 |
732821 |
| 3.2.1.76 | evolution |
the enzyme belongs to the glycosyl hydrolase family 39, GH39 |
731075 |
| 3.2.1.76 | malfunction |
deficiency of the enzyme leads to progressive accumulation of glycosaminoglycans, dermatan and heparan sulfate, in all organs and tissues, mucopolysccharidosis I is a lysosomal storage disorder that results from deficiency in the lysosomal enzyme alpha-L-iduronidase. Infusions of intravenous enzyme improves hepatosplenomegaly, pulmonary function, ambulation, jointmobility, cardiac function, and cognitive and neuroradiological progress |
732391 |
| 3.2.1.76 | malfunction |
enzyme deficiency causes mucopolysaccharidosis I, MCS I |
710324 |
| 3.2.1.76 | malfunction |
enzyme deficiency causes mucopolysaccharidosis type I, patients with MPS I developmental retardation, gross facial features, an enlarged and deformed skull, a small stature, corneal opacities, hepatosplenomegaly, valvular heart defects, thick skin, joint contractures and hernias |
731075 |
| 3.2.1.76 | malfunction |
enzyme dysfunction causes accumulation of dermatan/heparan sulfate leading to mucopolysaccharidosis type I. The defect of the enzyme leads to excess storage of dermatan/heparan sulfate and causes a systemic disorder, MPS I, involving progressive mental retardation, gross facial features, an enlarged and deformed skull, a small stature, corneal opacities, hepatosplenomegaly, valvular heart defects, thick skin, joint contractures, and hernias |
732821 |
| 3.2.1.76 | malfunction |
mucopolysaccharidosis I is an autosomal recessive lysosomal storage disease due to deficient alpha-L-iduronidase activity. It results in the accumulation of the glycosaminoglycans heparan and dermatan sulfate and leads to several clinical manifestations |
731638 |
| 3.2.1.76 | malfunction |
mucopolysaccharidosis type I arises from a deficiency in the alpha-L-iduronidase enzyme |
715115 |
| 3.2.1.76 | malfunction |
mucopolysaccharidosis type I is caused by a deficiency in lysosomal alpha-L-iduronidase activity |
716239 |
| 3.2.1.76 | malfunction |
mucopolysaccharidosis type I is caused by the deficient activity of the enzyme |
750342 |
