Follow console tv to get e-mail alerts and updates on your eBay Feed. Unfollow console tv to stop getting updates on your eBay Feed. Yay! You're now following console tv in your eBay Feed.
Tay-Sachs disease An inherited condition characterized by the absence of a single lysosomal enzyme called Hex A, which normally breaks down a membrane glycolipid called ganglioside G_M2 that is especially prevalent in nerve cells; usually occurs in children of Ashkenazi (eastern European Jewish) descent and is characterized by seizures and muscle rigidity.
single gene disorder. A hereditary disorder caused by a mutant allele of a single geneâe.g., achondroplastic dwarfism, autosomal dominant polycystic kidney disease, cystic fibrosis, Duchenne muscular dystrophy, familial polyposis coli, haemophilia, Huntingtonâs disease, retinoblastoma, sickle cell disease, etc.ingle gene disorder. A hereditary disorder caused by a mutant allele of a single geneâe.g., achondroplastic dwarfism, autosomal dominant polycystic kidney disease, cystic fibrosis, Duchenne muscular dystrophy, familial polyposis coli, haemophilia, Huntingtonâs disease, retinoblastoma, sickle cell disease, etc.