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Revista chilena de neuro-psiquiatría

versão On-line ISSN 0717-9227


VARAS M, Carmen et al. Clinical guidelines: Chilean consensus in Fabry disease. Rev. chil. neuro-psiquiatr. [online]. 2012, vol.50, n.3, pp.191-201. ISSN 0717-9227.

Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.

Palavras-chave : Fabry disease, alpha-galactosidase A; X-linked recessive inheritance; enzyme replacement therapy.

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