What causes mps1?
MPS I is caused by genetic changes in the IDUA gene. These genetic changes lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes.
What is mps1 disease?
Mucopolysarcharidosis type I (MPS I) is a rare, inherited disorder. MPS I is also known as Hurler syndrome. Children with Hurler syndrome have an abnormal accumulation of complex sugars in their cells, which affects many of the systems in their bodies.
What are the symptoms of MPS?
Individuals with severe MPS 1 may have a large head (macrocephaly), clouding of the cornea, hearing loss, recurrent ear and upper respiratory infections, enlarged organs including liver, spleen and vocal cords, heart disease, short stature, hernias, and carpal tunnel syndrome.
How do you test for mucopolysaccharidoses?
The term mucopolysaccharidoses refers to a number genetic conditions that cause sugar to be excreted in urine. Most cases of mucopolysaccharidoses are diagnosed after a child is 12 months old. A physical exam and diagnostic tests, including a urine test, are used to diagnose mucopolysaccharidoses.
Is mps1 curable?
There is no cure but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease. Aldurazyme is the first and only FDA approved ERT treatment developed through recombinant DNA technology for individuals with MPS I.
How is mps1 diagnosed?
To diagnose MPS I, a doctor will typically first do a urine test to look for abnormally high levels of glycosaminoglycans (GAGs). The results are compared to known reference ranges for various ages. Most individuals with MPS I have GAG levels in their urine that are higher than those of individuals without MPS I.
When is mps1 diagnosed?
The mean age of diagnosis for severe MPS I is approximately ten months; most affected children are diagnosed before age 18 months [Giugliani et al 2020]. In untreated individuals, death due to cardiorespiratory failure usually occurs within the first ten years of life.