Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a rare, genetic disorder that affects the body's ability to break down and recycle specific carbohydrates called mucopolysaccharides. The buildup of these substances in the body can lead to progressive damage to cells, tissues, and organs.
Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase. This enzyme’s job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts.
There is currently no cure for Hunter syndrome, but treatments aim to alleviate symptoms, improve quality of life, and slow down the progression of the disease. The following are some of the most commonly used treatments for Hunter syndrome:
Enzyme Replacement Therapy (ERT): This involves the regular infusion of a genetically engineered form of the enzyme that is deficient in people with Hunter syndrome. ERT can help reduce the buildup of mucopolysaccharides and improve the symptoms of the disease.
Substrate Reduction Therapy (SRT): This approach involves the use of drugs to reduce the production of mucopolysaccharides and slow down their accumulation in the body.
Gene Therapy: This is a relatively new and experimental treatment that aims to replace the defective gene responsible for Hunter syndrome with a functioning version of the gene.
Bone Marrow Transplantation: This procedure involves the transplantation of healthy bone marrow cells into a person with Hunter syndrome. The new bone marrow cells can produce the missing enzyme and improve the symptoms of the disease.
Symptomatic and Supportive Care: This involves the management of specific symptoms such as airway obstruction, heart disease, and joint problems. This can include physical therapy, orthopedic devices, and respiratory support.
It's important to note that treatment options and their effectiveness can vary depending on the specific type and severity of Hunter syndrome, and that not all treatments may be appropriate for every individual. It's crucial to work closely with a doctor or specialist in the field to determine the best course of action for each individual case.
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