A 40-year-old member asked:
Does fabry disease affect only males?
2 doctor answers • 4 doctors weighed in
Neurology 33 years experience
Fabry disease: Fabry disease is a hereditary disease and transmitted as x-linked recessive, meaning that the carrier mother transmits the disease to 50% of her sons, in some cases females can be affected by inactivation of the other x chromosome in female patient who usually has xx, in that cases the disease may be mild comparing to severe one in the male patient.
6.1k viewsAnswered >2 years ago
Vascular Surgery 20 years experience
Not always: The mutation is carried on the x-chromosone. Men have one y and one x chromosome, therefore they tend to express the gene product. Women have two x chromosomes, so it depends on which x chromosome becomes more active. In some unlucky women, they can express the full blown symptoms of fabry's disease. There are also some special cases of xy women out there, they would be likely to have symptoms.
5.6k viewsReviewed >2 years ago
Last updated Oct 3, 2016
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