MPS I
MPS I, or Mucopolysaccharidosis type I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is essential for breaking down certain complex carbohydrates called glycosaminoglycans (GAGs). When the enzyme is lacking, GAGs accumulate in various tissues, leading to a range of health issues.
Symptoms of MPS I can vary widely but often include skeletal abnormalities, heart problems, and developmental delays. The condition can be classified into two forms: Hurler syndrome, which is more severe, and Scheie syndrome, which is milder. Early diagnosis and treatment are crucial for managing the symptoms and improving quality of life.