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- W4319460050 abstract "GM2-gangliosidoses are neurodegenerative storage diseases, associated with intraneuronal GM2-ganglioside accumulation. Intralysosomal GM2-ganglioside hydrolysis requires the concerted action of β-hexosaminidase A (HexA) and its cofactor GM2-activator protein; thus disease can occur as a consequence of mutations in either the gene, which encodes subunits of HexA (α- and β-) or its cofactor, each of which is encoded by different genes. The three genetic–biochemical subtypes are clinically indistinguishable, encompassing Tay–Sachs (due to mutations in HEXA) and Sandhoff (HEXB mutations) disease, and the AB variant (GM2A mutations) cofactor defect. All three subtypes are inherited in an autosomal recessive fashion. The majority of affected individuals display a rapid degenerative course in childhood, but affected patients with late-onset forms show life extending into decades. Studies of underlying pathogenesis implicate neuroinflammatory processes and neurotoxicity resulting from the presence of the unacylated metabolite lyso-GM2 in brain. There are investigations of various therapeutic approaches, including substrate reduction therapy, the use of pharmacologic chaperones, and gene therapy. However, no specific treatment has been introduced that has altered what is ultimately a poor prognosis. Prevention has been achieved through carrier testing in populations at risk and prenatal diagnosis." @default.
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- W4319460050 date "2023-02-01" @default.
- W4319460050 modified "2023-09-25" @default.
- W4319460050 title "Infantile Tay-Sachs disease: The need for improved prenatal screening" @default.
- W4319460050 doi "https://doi.org/10.1016/j.ymgme.2022.107132" @default.
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