Ceramide trihexosidosis
Ceramide trihexosidosis 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.
Ceramide trihexosidosis 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.
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.
Ceramide trihexosidosis 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.