Tay-Sachs


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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
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References in periodicals archive ?
These are not disease genes, as genes for Tay-Sachs disease or cystic fibrosis are.
The patient was a 7-month old with early symptomatic infantile Tay-Sachs disease, and AXO-AAV-GM2 was delivered into the thalamus bilaterally as well as into the cisterna magna and lumbar intrathecal space, the planned route of administration for patients in the program.
Jayden easdale was diagnosed with rare genetic condition Tay-Sachs disease when he was 15 months old after visiting a neurologist at Aberdeen Royal infirmary in 2017.
Axovant recently reported three-month data from an investigator-initiated study administering investigational AXO-AAV-GM2 gene therapy in a patient with advanced infantile Tay-Sachs disease.
Due to the high unmet medical need, the company is initially prioritizing the development of the IB1000s series for the treatment of three orphan indications, including Niemann Pick disease Type C (NPC), inherited Cerebellar Ataxias (CA), GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease), for which there are currently no approved therapies.
The rabbis, he says, differed on when a pregnancy might cause danger to a women's life, or even to her well-being; two well-known 20th-century rabbis offered this leniency in the case of a fetus carrying Tay-Sachs disease, and another minority opinion thought it worth preventing the birth of a mamzer, or illegitimate child.
Layal Ahmed Kadhem has been in Salmaniya Medical Complex (SMC) since 2014 for Tay-Sachs disease, a disorder that results in the destruction of nerve cells in the brain and spinal cord.
GM2 gangliosidoses including Tay-Sachs disease [TSD, Online Mendelian Inheritance in Man (OMIM) 272800], Sandhoff disease (SD, OMIM 268800) and GM2 activator protein deficiency (GM2; OMIM 272750) are rare lysosomal storage disorders of the sphingolipid metabolism due to an autosomal recessive inheritance.
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.
Deficiencies of N-acetyl-[beta]-hexosaminidase A and B isoenzyme activities in neonatal body are the reason for storing gangliosides in their lysosomes that cause Sandhoff and Tay-Sachs diseases [11].
If only one parent has a cell for Tay-Sachs, for example, and you knock it out, you eliminate the 50-percent possibility that the child will carry the disease.
Ashkenazi Jews, for example, are most likely to be carriers of the mutated HEXA gene linked to (http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Introduction.aspx) Tay-Sachs disease , a fatal genetic disorder.