tay sachs disease

İngilizce - İngilizce

tay sachs disease teriminin İngilizce İngilizce sözlükte anlamı: {i} (Medicine) genetic disorder of lipid metabolism; hereditary disorder caused by deficiency of a vital enzyme called Hexosaminidase (occurs in east European Jewish families); lipids accumulation that affects the brain and nervous tissues resulting in death in early childhood; Recessive hereditary metabolic disorder, mostly in Ashkenazi Jews, causing progressive mental and neurologic deterioration and death by age five. A lipid, ganglioside GM2, accumulates in the brain (because of inadequate activity of the enzyme that breaks it down), with devastating neurological effects. Infants appear normal at birth but soon become listless and inattentive, lose motor abilities, and develop seizures. Blindness and general paralysis usually precede death. Tests can detect the disease in fetuses and the Tay-Sachs gene in carriers. There is no treatment; a hereditary disorder of lipid metabolism occuring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

tay sachs disease