Alpha-L-iduronidase
Alpha-L-iduronidase (pronunciation: al-fa el i-dur-o-ni-dase) is an enzyme that plays a crucial role in the breakdown of certain complex carbohydrates in the body. It is encoded by the IDUA gene in humans.
Etymology
The term "Alpha-L-iduronidase" is derived from the Greek words "alpha" (first), "iduron" (a type of sugar), and "ase" (suffix used in biochemistry to form names of enzymes).
Function
Alpha-L-iduronidase is responsible for the hydrolysis of unsulfated regions of dermatan sulfate and heparan sulfate. These complex carbohydrates are found in a variety of body tissues, including the skin, tendons, and the cornea of the eye.
Clinical significance
Deficiency of Alpha-L-iduronidase leads to the accumulation of dermatan sulfate and heparan sulfate in the body. This accumulation causes a group of genetic disorders known as Mucopolysaccharidoses. Specifically, Alpha-L-iduronidase deficiency causes Mucopolysaccharidosis type I (MPS I), which includes Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome.
Related terms
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