A serious inherited metabolic disorder that causes premature death. The cause is deficiency of the enzyme hexosaminidase A, which results in a build up in the brain of a harmful substance. Symptoms often appear after the age of 6 months and include paralysis, seizures and blindness, leading to death by aged 3-5 years.
Diagnosis is made by analysis of the enzymes of white blood cells. There is no treatment for the disorder but it is now heavily prevented by screening and genetic counselling of high risk groups, such as Ashkenazi Jews.