Sorry, your search did not match any doctors. Here are some other doctors that we have hand picked for you!
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
A diagnosis of a mucopolysaccharidosis disorder is made based upon a thorough clinical evaluation, identification of characteristic findings (e.g., coarse facial features, skeletal malformations, hepatosplenomegaly), and a variety of specialized tests including urine analysis to detect excessive levels of mucopolysaccharides. Tests known as enzyme assays may be performed to detect deficient levels of lysosomal enzymes in cells of the body.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
The various treatment options include:
• Enzyme replacement therapy (ERT) - It can relieve most symptoms and slow the progress of the disease, although it doesn't help treat symptoms from the brain, like problems with thinking or learning.
• hematopoietic stem cell transplant (HSCT) - doctors put new cells into your child's body that might make the protein their body is missing.
DID YOU KNOW?
Treatment methods like enzyme replacement therapy are being researched upon for treating Mucopolysaccharidosis