Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS 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 severity of the condition can differ, with some individuals experiencing mild symptoms while others face more severe challenges. Early diagnosis and treatment are crucial for managing the disorder effectively.