Resumo

PENA-GUZMAN, Laura Lucia; RODRIGUEZ-QUINTANA, Jesús Hernán  e  OJEDA-MONCAYO, Clímaco Ernesto. α-galactosidase A Heterozygous mutations gene in two patients with cryptogenic stroke. Acta Neurol Colomb. [online]. 2017, vol.33, n.1, pp.8-11. ISSN 0120-8748.  https://doi.org/10.22379/24224022123.

Fabry's disease is a recessive X linked genetic disorder in which lysosomal enzyme alpha-galactosidase A activity is affected, with accumulation of different kind of metabolites such as globotriaosylceramide and the deacylated globotriaosylceramide which are responsible for the multi-organ dysfunction that is seen in this disease, and also of the several phenotypic manifestations, mainly in nervous system, skin, gastrointestinal tract, heart and kidney.

Earlier neurological manifestation is neuropathic pain could finding also gastrointestinal tract, skin and eye complaints while Cardiac and renal damage present later like as cerebrovascular disease which presents in adulthood.

Two clinical cases of young patients with cryptogenic stroke with heterozygous mutations for Fabry's disease are presenting below.

Palavras-chave : Fabry disease; alpha- galactosidase; cryptogenic stroke (MeSH).

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