BACKGROUND Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully...

Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. Australian high-school-based TSD preconception genetic screening programs aim to screen, educate, and optimize reproductive choice for participants. These programs have demonstrated hi...

Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confi...

The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis). Gray matter of patients with each disease showed a characteristic abnormal ceramide hexoside pattern. In Tay-Sachs gray matter, ceramide trihexoside is the major component, whereas ceramide tetrahexoside is b...

Tay-Sachs disease (TSD) is a lysosomal storage disease that is inherited in an autosomal recessive pattern. Lysosomal storage diseases are a group of disorders characterized by deficiency of a specific single lysosomal enzyme, resulting in accumulation of abnormal metabolic products. TSD is characterized by a deficiency in a common lysosomal acid hydrolase, hexosaminidase A (Hex A). An insuffic...

A procedure is described for the preparation of Tay-Sachs ganglioside specifically labeled in the sialic acid portion of the molecule. Rat brain gangliosides were labeled biosynthetically by the intracranial injection of N-acetyl-(3)H-D-mannosamine. Radioactive gangliosides were isolated and selectively degraded with bacterial neuraminidase and rat liver beta-galactosidase to Tay-Sachs ganglios...

Case presentation: Patient R.P.C., birth 06/10/2019, female, referred from pediatric clinic at two years old due to speech regression. In August 2021, she underwent routine funduscopy, prematurity, showing a red cherry spot. her neuropsychomotor development, presented cephalic support three months of age, sat up eight months, walked 11 started two-syllables nine but regressed, and currently onl...