Definition:
Ceramide trihexosidosis is also known as Fabry's disease, and is a condition wherein an enzyme deficiency causes a fat storage disorder. This is because the enzyme deficiency affects the lipid biodegradation functions of the body.
Treatment:
Medications such as Tegretol and dilantin can help reduce the pain in the hands and feet, while Lipisorb is used to treat the gastrointestinal hyperactivity. Enzyme replacement is also a popular method of treatment for those who have ceramide trihexosidosis.
Symptoms and Signs:
Symptoms of ceramide trihexosidosis are red spots in the skin, fatigue, and anhidrosis. A number of patients also suffer from gastrointestinal problems due to frequent needs to use the bathroom right after eating. Some patients also report a pain in their hands and feet.
Causes:
Genetics is said to be the cause behind those with ceramide trihexosidosis. The X-chromosome gene is responsible for the disease, and the mother who has a chromosome is able to pass it on to her child. Her son would have a 50% chance of having the disease, while her daughter would have a 50% chance of being a future carrier.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
