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Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Molecular genetics & genomic medicine - 1 Jun 2021

Park Ji Hong, Ko Jung Min, Kim Min Sun, Kim Man Jin, Seong Moon-Woo, Yoo Taekyeong, Lim Byung Chan, Chae Jong-Hee

Abstract excerpt

BACKGROUND: Tay-Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2-ganglioside in lysosomes, decreased levels of HEXAcauses an accumulation of the protein and leads to neurological toxicity. Typical clinical manifestations of TSD include neurodevelopmental regression, muscle...

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PMID: 33811753
DOI: 10.1002/mgg3.1677
PMCID: PMC8222837

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Source receipt: pubmed, retrieved 7 Sept 2026.

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