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Sphingolipidoses in Turkey.

Hatice Asuman Ozkara1, Meral Topçu

  • 1Department of Biochemistry, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey. ozkara@hacettepe.edu.tr

Brain & Development
|July 28, 2004
PubMed
Summary

Sphingolipidoses are common in Turkey, affecting 15% of children with neurologic symptoms. Metachromatic leukodystrophy, Sandhoff disease, and Krabbe disease are the most frequent types, highlighting a significant public health concern.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders.
  • Sphingolipidoses are a major subclass of LSDs, characterized by the accumulation of sphingolipids.
  • Neurologic symptoms in children under 5 often warrant investigation for LSDs.

Purpose of the Study:

  • To determine the frequency and incidence of various sphingolipidoses in Turkish children.
  • To establish the prevalence of specific sphingolipidoses, including metachromatic leukodystrophy (MLD), Sandhoff disease (SHD), Tay-Sachs disease (TSD), GM1 gangliosidosis, Fabry disease, Krabbe disease, and Gaucher disease.
  • To assess the utility of prenatal diagnosis for at-risk pregnancies.

Main Methods:

  • Enzymatic screening of lysosomal enzymes in 2057 referred children.
  • Diagnosis of specific sphingolipidoses based on enzyme deficiencies.
  • Prenatal diagnosis using chorionic villus biopsy, cord blood samples, and cultured amniotic fluid cells.

Main Results:

  • 300 patients (15%) were diagnosed with sphingolipidoses.
  • The most common types were MLD (31%), Krabbe disease (21.7%), and SHD (20.7%).
  • Combined incidence of sphingolipidoses is 4.615 per 100,000 live births in Turkey, with specific incidences calculated for each disease.

Conclusions:

  • Sphingolipidoses represent a significant health issue in Turkey due to their relatively high prevalence.
  • Consanguineous marriages may contribute to the 'founder effect' of some rare autosomal recessive diseases in the region.
  • Prenatal diagnosis is feasible and crucial for managing at-risk pregnancies.

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