A serious inherited metabolic disorder (see metabolism, inborn errors of) that causes premature death. The cause is deficiency of the enzyme hexosaminidase A, which results in a buildup in the brain of a harmful substance. Symptoms usually appear after age 6 months and include blindness, paralysis, and seizures leading to death. Diagnosis is made by enzyme analysis of white blood cells. It is now largely prevented by genetic counselling of highrisk groups.
Tay–Sachs disease |
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