Ceramide trihexosidosis

Below you will find more information about Ceramide trihexosidosis from Medigest. If you believe that you are suffering from any of the symptoms of Ceramide trihexosidosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Ceramide trihexosidosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Ceramide trihexosidosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


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.


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.


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.

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