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Noun1.Tay-Sachs - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
lipidosis - a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
References in periodicals archive ?
Consanguinity not only severely increases the prevalence of inherited blood disorders such as thalassaemia, haemophilia and sickle cell disorders, rare congenital conditions like Harlequin-type skin disease, but also severe recessive disorders such as Tay-Sachs, cystic fibrosis, congenital heart defects, diabetes, spinal muscular atrophy, albinism, hearing impairment, epilepsy, schizophrenia, physical and intellectual disabilities, and other neuro-degenerative conditions.
As far as your bloodline is concerned, your action has eliminated the errant gene and rendered Tay-Sachs extinct.
But about 10,000 medical conditions are linked to specific mutations, including Huntington's disease, cancers caused by BRCA genes, Tay-Sachs disease, cystic fibrosis, sickle cell anaemia, and some cases of early-onset Alzheimer's.
aspx) Tay-Sachs disease , a fatal genetic disorder.
It a couple discovered their fetus had Tay-Sachs disease or Down syndrome and wanted an abortion, the law denied them that option.
Non-invasive prenatal testing (NIPT) test can detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay-Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.
The Jewish community's response to Tay-Sachs may be a public health success story, and yet it has led to little standardization in carrier screening, even among Jews.
Potent GCS inhibitors reduce glucosylceramide (GlcCer), the substrate of GBA and the storage material in Gaucher, and also higher glycosphingolipids including gangliosides and globosides, the causative storage materials in Tay-Sachs disease, GM1 gangliosidosis and Fabry disease.
Testing Fate: Tay-Sachs Disease and the Right to Be Responsible
Last year, Ryan and wife Sam's two-year-old son Rohan was diagnosed with Tay-Sachs disease - a genetic condition which causes progressive damage to the nervous system.
Her daughter Hope, three, was born with the rare inherited Tay-Sachs disorder which harms the nervous system and has left her suffering from seizures and unable to lift her head or communicate.