tay-sachs

• Наследственное нарушение липидного обмена, наиболее часто встречающееся у лиц еврейского происхождения из Восточной Европы, при котором накопление липидов в нервной ткани приводит к смерти в раннем детстве.

A hereditary disorder of lipid metabolism, most frequently occurring in individuals of Jewish descent from eastern Europe, where accumulation of lipids in nervous tissue results in death in early childhood.

uncountable · proper noun

1. Hereditary metabolic disorderC2formalmedical

   A rare, inherited condition that causes progressive damage to nerve cells in the brain and spinal cord, typically leading to death in early childhood. It is most common among certain populations, including Ashkenazi Jews.

   Наследственное метаболическое расстройство

   • Tay-Sachs disease is caused by a deficiency of the enzyme hexosaminidase A.
   • Infants with Tay-Sachs appear normal at birth but begin to show symptoms around six months of age.
   • Genetic testing can identify carriers of the Tay-Sachs mutation.

   Synonymstay-sachs disease