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Sandhoff disease in the Turkish population

H A Ozkara1, M Topçu, Y Renda

  • 1Department of Biochemistry, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Brain & Development
|December 31, 1997
PubMed
Summary

Sandhoff disease patients showed deficient hexosaminidase activity. Variations in heat-stable enzyme levels correlated with clinical presentation, suggesting diverse mutations in the Turkish population.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Sandhoff disease is a rare genetic disorder.
  • It is caused by mutations in the HEXB gene, leading to deficient hexosaminidase B and S enzyme activity.
  • Enzyme deficiencies result in the accumulation of GM2 gangliosides, causing progressive neurodegeneration.

Purpose of the Study:

  • To investigate the clinical and enzymatic characteristics of Sandhoff disease patients in the Turkish population.
  • To determine the minimum incidence of Sandhoff disease in Turkey.
  • To explore the correlation between enzyme activity profiles and clinical manifestations.

Main Methods:

  • Enzymatic studies of serum and leukocytes using 4-MU-N-acetylglucosaminide substrate.
  • Thermolabile fractionation to analyze hexosaminidase isoenzymes A and B.
  • Clinical assessment of organomegaly in affected individuals.
  • Calculation of indirect minimum disease incidence in the Turkish population.

Main Results:

  • Severely deficient hexosaminidase activity was observed in serum and leukocytes.
  • Fractionation revealed varying levels of hexosaminidase isoenzymes A and B.
  • Organomegaly was absent in 11/18 patients and mild in 7/18.
  • Absence of organomegaly correlated with higher percentages of hexosaminidase B activity.

Conclusions:

  • Patients with different heat-stable enzyme activity percentages may harbor distinct mutations.
  • These findings suggest molecular heterogeneity underlying Sandhoff disease in the Turkish population.
  • Consanguinity rates in Turkey may contribute to the prevalence of such genetic disorders.

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