idua

IDUA refers to the gene encoding alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex sugar molecules called glycosaminoglycans (GAGs) within lysosomes, cellular organelles responsible for waste breakdown. Specifically, alpha-L-iduronidase is involved in the degradation of dermatan sulfate and heparan sulfate.

Mutations in the IDUA gene lead to a deficiency or complete absence of functional alpha-L-iduronidase enzyme activity. This deficiency results in the progressive accumulation of GAGs within lysosomes throughout the body. The accumulation overwhelms cellular function and can lead to a severe genetic disorder known as mucopolysaccharidosis type I (MPS I).

MPS I is a metabolic disorder with a wide spectrum of clinical severity, ranging from mild to very severe. Individuals with severe MPS I, often referred to as Hurler syndrome, typically experience significant intellectual disability, coarse facial features, skeletal abnormalities, organ enlargement, and shortened lifespan. Milder forms, such as Scheie syndrome, may present with less severe symptoms, including joint stiffness, corneal clouding, and heart valve problems, with normal or near-normal intelligence. Intermediate forms, like Hurler-Scheie syndrome, exhibit a combination of features. Diagnosis is typically made through biochemical testing measuring enzyme activity and genetic testing to identify mutations in the IDUA gene. Treatment options can include enzyme replacement therapy, hematopoietic stem cell transplantation, and supportive care.