Affiliation:
1. MD. Universidad Nacional de Colombia
2. MD. Universidad Cooperativa de Colombia.
3. MD. Universidad Central del Valle.
4. MD. Universidad Simón Bolívar.
5. MD. Universidad Simón Bolívar
6. MD. Ponticia Universidad Javeriana
7. MD. Universidad de Cartagena.
8. MD. Universidad de Pamplona.
Abstract
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare, progressive, multisystemic
lysosomal storage disease caused by deciency of iduronate 2 sulfatase, an enzyme responsible for the
degradation of the mucopolysaccharides dermatan (DS) and keratan sulfate (QS), causing their accumulation at the lysosomal
level. It is an X-linked disease, therefore it is common to nd most cases in men, rarely in women, it is considered an orphan
disease given an incidence of approximately 1/100,000 live births. Various phenotypes of severe (2/3) and attenuated disease
have been described. The diagnosis is based on clinical ndings and the measurement of mucopolysaccharides DS and QS in
urine, which are elevated, conrmed by determining the enzyme deciency in serum, leukocytes and broblasts. It has been
observed that in patients with enzyme replacement therapy somatic symptoms have decreased, however there are several
studies of alternative therapies in the future, including gene therapy as an alternative in the future.
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