Rapid detection of fetal mendalian disorders: Tay-Sachs disease

Esther Guetta*, Leah Peleg

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is carried out with biochemical and DNA-based methods in peripheral and umbilical cord blood, amniotic fluid, and chorionic villi samples. The assay of hexosaminidase A (Hex A) activity is carried out with synthetic substrates, 4-methylumbelliferyl-6-sulfo-N-acetyl-β- glucosaminide (4-MUGS) and 4-methylumbelliferil-N-acetyl-β-glucosamine (4-MUG), and the DNA-based analysis involves testing for the presence of specific known mutations in the α-subunit gene of Hex A. Prenatal diagnosis of Tay-Sachs disease is accomplished within 24-48∈h from sampling. The preferred strategy is to simultaneously carry out enzymatic analysis in the amniotic fluid supernatant or in chorionic villi and molecular DNA-based testing in an amniotic fluid cell-pellet or in chorionic villi.

Original languageEnglish
Title of host publicationPrenatal Diagnosis
PublisherHumana Press
Number of pages13
ISBN (Print)9781588298034
StatePublished - 2008
Externally publishedYes

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • 4-methylumbelliferil-N′-acetyl- β-glucosamine (4-MUG)
  • 4-methylumbelliferyl-6-sulfo-N′-acetyl-β- glucosaminide (4-MUGS)
  • Amniocentesis
  • Chorionic villi sampling
  • HEXA gene
  • Hexosaminidase
  • Prenatal diagnosis
  • Tay-Sachs disease


Dive into the research topics of 'Rapid detection of fetal mendalian disorders: Tay-Sachs disease'. Together they form a unique fingerprint.

Cite this