SciELO - Scientific Electronic Library Online

vol.33 issue1Intravenous thrombolysis in patients with ischemic stroke: Experience from a Colombian Caribbean HospitalHerpetic encephalitis in pediatrics: case report author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google


Acta Neurológica Colombiana

Print version ISSN 0120-8748


PENA-GUZMAN, Laura Lucia; RODRIGUEZ-QUINTANA, Jesús Hernán  and  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.

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.

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

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )