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Mucopolysaccharidosis type II Hunter syndrome- mild form



Mucopolysaccharidosis type II Hunter syndrome- mild form Causes


Just like the other MPS illnesses, Hunter syndrome is genetic.


Mucopolysaccharidosis type II Hunter syndrome- mild form Definition


Hunter syndrome or mucopolysachharoidosis Type II is a lyososomal storage disease caused by a deficiency or absence of the enzyme idunorate-2-sulfatase (l2S). It is named after Scottish physician Charles A. Hunter who emigrated to Canada and practiced medicine there.


Mucopolysaccharidosis type II Hunter syndrome- mild form Diagnosis


Laboratory tests or screening such as urine test for GAG. The most definitive procedure though is by measuring l2S activity in serum, white blood cells, or fibroblasts from skin biopsy. Prenatal diagnosis is also routinely available.


Mucopolysaccharidosis type II Hunter syndrome- mild form Symptoms and Signs


The symptoms of Hunter syndrome (MPS II) are normally not evident at birth but they usually start to become obvious after the first year of life. Usually the first symptoms of Hunter syndrome may include inguinal hernias, ear infections, runny noses, and colds. Some kids may also have a large head as well as an enlarged abdomen. Frequent ear and respiratory tract infections continue to be experienced by many while growing up.


Mucopolysaccharidosis type II Hunter syndrome- mild form Treatment


Treatment of the illness is very difficult due to its specific nature. Pallaiative treatment, bones marrow graft, and elaprase are the most commonly recommended ways to manage the illness.


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