According to a story from Fabry Disease News, a recent study has found that despite changes to sperm cells, the fertility of men with Fabry disease is not affected. The mutations that cause the illness to appear alter the activity of an enzyme called alpha-GAL A. This causes a certain type of fat called Gb3 to build up in various organs. Deposits of the fat have been identified in the reproductive tract of Fabry disease patients.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
The study included 18 male Fabry disease patients that ranged from age 18 to 65. These men submitted semen samples for testing which revealed that 14 of the patients, or 82.4 percent, had some sort of sperm abnormality. 16 of the patients also completed a fertility questionnaire and 11 of them were deemed fertile based on their responses. 76.5 percent of patients had some degree of deformation or structural alteration of the reproductive tract that was visible on an ultrasound.
Patients that were older and had been using enzyme replacement therapy for longer were more likely to have sperm abnormalities. The researchers concluded from the study results that these abnormalities appeared to have only a minimal effect on the patients’ reproductive capability.