Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors

Abstract excerpt

Sir, Tay–Sachs disease (TSD) is one of the common glycolipid storage disorders with an incidence of 1 in 100,000 live births.[1] TSD (OMIM # 272800) is a result of biallelic pathogenic variants in the HEXA gene that causes deficiency of β-hexosaminidase A (HexA) enzyme (EC 3.2.1.52). This is further categorized into a classic infantile form, sub-acute juvenile form, and late-onset form, depending on the age of...

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