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...

OBJECTIVE GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHODS Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's...

Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were...

The GM2 activator deficiency (also known as the AB variant), Tay-Sachs disease, and Sandhoff disease are the major forms of the GM2 gangliosidoses, disorders caused by defective degradation of GM2 ganglioside. Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A. The GM2 activator deficiency is caused by mutations in...

The metabolism of Tay-Sachs ganglioside, Cer-Glc-Gal(NeuAc)-GalNAc (G& was investigated by using GNIZ specifically labeled with 3H in the NeuAc moiety or with W in GalNAc. There are two possible pathways for the catabolism of GM2 in brain, initiated via GMM-sialidase or GM2hexosaminidase. The products of the sialidase reaction were identified and are Cer-Glc-Gal-GalNAc and NeuAc; the hexosamini...

To assess the feasibility of screening the single Jewish population for Tay-Sachs disease (TSD), a questionnaire examining the knowledge of and attitudes toward TSD and genetic screening was sent to 348 Yale University Jewish undergraduates. Of those students responding (63 percent), 78 percent were able to answer general genetic questions correctly while only 1.9 percent could answer specific ...