Thelansis

Mucopolysaccharidosis type I (MPS I), or Hurler Syndrome, is a genetic condition that impacts various body parts. It is caused by alterations in the IDUA gene, resulting in a deficiency or complete absence of the IDUA enzyme. In the absence of this enzyme, large sugar molecules, known as glycosaminoglycans (GAGs), accumulate within cellular structures called lysosomes. This accumulation causes lysosomes to increase, leading to the enlargement of multiple organs and tissues in the body, which is responsible for the observed medical issues associated with the condition. Typically, the clinical onset of MPS I occurs between three and ten. The severity and progression of the disease can vary widely, ranging from severe, life-threatening complications that may lead to death in the second or third decade of life to a relatively longer but compromised lifespan characterized by significant disability resulting from progressive joint problems and cardiorespiratory issues. One available treatmen

  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 hepatosplenom