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Lysosomal storage diseases in Greece

H Michelakakis1, E Dimitriou, S Tsagaraki

  • 1Dept. of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
PubMed
Summary

This study identified lysosomal storage disorders in 94 Greek patients over 13 years. Sanfilippo B, Gaucher disease, and Hunter syndrome were the most common mucopolysaccharidoses and sphingolipidoses diagnosed.

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Area of Science:

  • Medical Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Lysosomal storage disorders (LSDs) are a group of rare genetic diseases.
  • Accurate diagnosis and epidemiological data are crucial for understanding LSD prevalence in specific populations.
  • Greece has a need for comprehensive data on LSDs.

Purpose of the Study:

  • To determine the prevalence and spectrum of lysosomal storage disorders in Greece.
  • To identify the most common LSDs and their subtypes within the Greek population.
  • To analyze the geographical distribution of diagnosed LSD cases.

Main Methods:

  • Retrospective analysis of patient referrals to the Institute of Child Health over 13 years.
  • Screening for suspected lysosomal storage disorders, including mucopolysaccharidoses (MPS) and sphingolipidoses.

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  • Diagnostic confirmation and classification of identified LSDs.

    • Main Results:

    • 2745 patients were referred, with 1581 suspected of MPS.
    • 94 cases (3.42%) were positive for LSDs: 36 MPS, 6 mucolipidoses, 3 mannosidosis, 47 sphingolipidoses/other LSDs, and 19 non-LSDs.
    • Sanfilippo B was the most frequent MPS, followed by Gaucher disease and Hunter syndrome, which were the most common LSDs overall.

    Conclusions:

    • Lysosomal storage disorders are diagnosed in a small but significant percentage of referred patients in Greece.
    • Sanfilippo B, Gaucher disease, and Hunter syndrome represent the most prevalent LSDs in the Greek population.
    • Further epidemiological studies are warranted to refine understanding of LSDs in Greece.