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Related Experiment Videos

Tay-Sachs disease: B1 variant.

B A Gordon1, K E Gordon, G G Hinton

  • 1Department of Biochemistry, University of Western Ontario, Canada.

Pediatric Neurology
|January 1, 1988
PubMed
Summary

This study details a B1 variant Tay-Sachs disease case with early onset and rapid progression. Enzyme assays revealed significantly reduced hexosaminidase A activity, confirming the diagnosis.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Neurology

Background:

  • Tay-Sachs disease is a rare genetic disorder caused by mutations in the HEXA gene, leading to a deficiency in the enzyme hexosaminidase A.
  • The B1 variant is a specific form of Tay-Sachs disease characterized by a particular pattern of enzyme activity.
  • Early diagnosis and understanding of disease variants are crucial for patient management and genetic counseling.

Observation:

  • A female infant presented with nystagmus, cherry-red macular spots, and hyperacusis, exhibiting a clinical course typical of Tay-Sachs disease.
  • The patient displayed a more rapid and earlier onset of symptoms compared to previously reported cases of the B1 variant.
  • Neurological deterioration was progressive, consistent with advanced stages of the disease.

Findings:

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  • Total beta-N-acetylhexosaminidase levels were normal in plasma and fibroblasts, but reduced in leukocytes.
  • Hexosaminidase A activity in plasma and fibroblasts was at heterozygote levels.
  • Crucially, hexosaminidase A activity using a specific substrate (4 MU Glc NAc-6-sulfate) was markedly deficient (<8% in plasma, <2% in leukocytes, <1% in fibroblasts) compared to controls.

Implications:

  • This case highlights the diagnostic importance of specific enzyme assays for Tay-Sachs disease variants.
  • The B1 variant may present with a more severe and accelerated clinical course than previously understood.
  • Further research into genotype-phenotype correlations in Tay-Sachs disease is warranted to predict disease progression and outcomes.