Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (pronunciation: myoo-ko-poly-sak-uh-ri-doh-sis type one) is a rare genetic disorder characterized by the body's inability to properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans.
Etymology
The term "Mucopolysaccharidosis" is derived from the type of sugar molecule (mucopolysaccharides) that builds up in the body due to the disorder. The "type I" designation refers to the specific enzyme that is deficient or missing in this variant of the disorder.
Symptoms
Symptoms of Mucopolysaccharidosis type I can range from mild to severe and may include abnormal bone size or shape, abnormal development, hydrocephalus, vision loss, and heart disease.
Causes
Mucopolysaccharidosis type I is caused by mutations in the IDUA gene. This gene provides instructions for producing an enzyme that helps break down mucopolysaccharides. When this gene is mutated, the enzyme is either missing or doesn't work properly, leading to a buildup of these sugar molecules in the body.
Diagnosis
Diagnosis of Mucopolysaccharidosis type I typically involves a thorough medical history, a physical examination, and specific laboratory tests that measure the level of the IDUA enzyme or look for excess mucopolysaccharides in the urine.
Treatment
Treatment for Mucopolysaccharidosis type I may include enzyme replacement therapy, bone marrow transplant, or gene therapy. These treatments can help manage symptoms and slow the progression of the disease, but they cannot cure it.
See also
- Mucopolysaccharidosis
- Genetic disorder
- Enzyme replacement therapy
- Bone marrow transplant
- Gene therapy
External links
- Medical encyclopedia article on Mucopolysaccharidosis type I
- Wikipedia's article - Mucopolysaccharidosis type I
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