1930 "Amaurotic family idiocy (
Tay-Sachs disease) clinical report of a case." Journal of Nervous and Mental Disease 71: 268-70.
The remaining LSDs in which LAMP-1 was not increased (Krabbe disease, MLD, and
Tay-Sachs disease) had significant numbers of patients (44-71%) with increases in saposin concentrations (Table 2).
But we were willing to accept and love the child, no matter what." Eight months after implantation, Renee gave birth to a daughter, Brittany, and the Abshires became the parents of the first-ever baby born with the help of pre-implantation diagnosis for
Tay-Sachs disease.
See also: Ataxia, Neurometabolic Disorders,
Tay-Sachs DiseaseLayal was admitted to hospital in October 2014 with acute asthma but quickly her condition deteriorated which was when doctors discovered she had
Tay-Sachs disease.
Screening during pregnancy to determine if one or both parents are carriers of genetic disorders historically has involved testing for a limited number of conditions, such as cystic fibrosis, hemoglobinopathies, and
Tay-Sachs disease. Patients usually are offered testing for 1 or 2 disorders, with test choices primarily based on patient race and ethnicity.
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.
As an example of the potential of that concept, she discusses the push within the Jewish community for prospective parents to test for
Tay-Sachs disease. But, Rochman asks, wouldn't it be better for everyone to know ahead of time, just in case?
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.
It is not about questioning God's purposes in the context of
Tay-Sachs Disease, as the title might suggest.