Tay-Sachs disease is a human genetic disease caused by a recessive allele for a faulty enzyme, leading to lipid accumulation in the brain, seizures, blindness, motor/mental decline, and death.
La maladie de Tay-Sachs est une maladie génétique humaine due à un allèle récessif d'une enzyme défectueuse, provoquant l'accumulation de lipides dans le cerveau, entraînant des convulsions, la cécité et une dégénérescence des fonctions motrices et mentales, aboutissant au décès.
Front | Tay-Sachs disease |
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Back | A human genetic disease caused by a recessive allele for a dysfunctional enzyme, leading to accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after birth, followed by death within a few years. |
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