Mucopolysaccharidosis, type I (MPS I) is a rare genetic disorder that affects the body's ability to break down complex sugars, leading to the accumulation of these substances in various organs and tissues. It is caused by a deficiency in the enzyme alpha-L-iduronidase, which is responsible for breaking down glycosaminoglycans (GAGs) in the body.
The incidence of MPS I is estimated to be around 1 in 100,000 births, making it a rare disease. The symptoms of MPS I can vary widely depending on the severity of the disease and the organs and tissues affected by the accumulation of GAGs. Some of the common symptoms of MPS I include facial abnormalities, skeletal deformities, hearing loss, heart problems, and developmental delays.
There are three types of MPS I, which are distinguished by the severity of the disease and the age at which symptoms appear:
Currently, there is no cure for MPS I, and treatment is focused on managing the symptoms of the disease. Enzyme replacement therapy (ERT) is a treatment option for some forms of MPS I, which involves giving the patient regular infusions of the missing enzyme alpha-L-iduronidase. This can help to reduce the accumulation of GAGs and improve some of the symptoms of the disease.
In addition to ERT, other treatments for MPS I may include surgery to correct skeletal deformities, hearing aids or cochlear implants to address hearing loss, and heart surgery to correct cardiac abnormalities. It is important for individuals with MPS I to receive ongoing medical care from a team of specialists, including geneticists, pediatricians, and other healthcare providers.
Mucopolysaccharidosis, type I is a rare genetic disorder that can have a significant impact on a person's health