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Article

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.

Journal of Korean medical science - 1 Feb 1993

Yoo H W, Astrin K H, Desnick R J

Abstract excerpt

Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish population. Tay-Sachs disease has provided the prototype for the prevention of severe recessive genetic diseases....

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Source

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Identifiers

PMID: 8343225
DOI: 10.3346/jkms.1993.8.1.84
PMCID: PMC3053844

Genes

HEXA

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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