IDUA
Description
The IDUA gene, provides instructions for making the enzyme alpha-L-iduronidase. This enzyme is crucial for breaking down complex sugar molecules called glycosaminoglycans (GAGs). When the IDUA gene is mutated, alpha-L-iduronidase is either deficient or non-functional, leading to the accumulation of GAGs in various tissues and organs. This accumulation causes a spectrum of health problems, collectively known as mucopolysaccharidosis type I (MPS I).
Associated Diseases
- Hurler Syndrome (MPS IH): The most severe form, characterized by severe skeletal and organ abnormalities, cognitive impairment, and shortened lifespan.
- Scheie Syndrome (MPS IS): A milder form with primarily skeletal and eye abnormalities, but normal cognitive function.
- Hurler-Scheie Syndrome (MPS IH/S): A milder form than Hurler but more severe than Scheie, with some skeletal and cognitive issues.
- MPS I with an attenuated phenotype: A rare form with milder symptoms than Hurler but more severe than Scheie.
Did you know?
Mutations in the IDUA gene can occur spontaneously or be inherited from parents who carry the gene.
