Thelansis

  Mucopolysaccharidosis type I (MPS I), also known as Hurler Syndrome, is a condition that affects many parts of the body and is caused by genetic changes in the IDUA gene that result in reduced levels or the complete absence of the IDUA enzyme. Large sugar molecules known as glycosaminoglycans (GAGs) accumulate within cells called lysosomes when this enzyme is deficient. This causes the lysosomes to grow in size, causing many different body organs and tissues to enlarge. This leads to the medical problems seen in the condition. Clinical onset is usually between ages three and ten. The severity and rate of disease progression range from severe life-threatening complications leading to death in the second to third decade to an average life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. As a treatment option, HSCT can improve cognitive outcomes, increase survival, improve growth, reduce facial coarseness and hepatospl...