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Sanfilippo disease in Greece.

N G Beratis, S L Sklower, L Wilbur

    Clinical Genetics
    |February 1, 1986
    PubMed
    Summary

    This study identified 11 patients with Sanfilippo disease in Greece, finding a higher prevalence of type B (10 cases) over type A (1 case). Further research is needed to determine if this pattern is unique to Greece or common in Mediterranean regions.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Sanfilippo disease is a rare genetic disorder affecting children.
    • While Sanfilippo disease type A is generally more common globally than type B, regional variations are possible.

    Purpose of the Study:

    • To investigate the prevalence of Sanfilippo disease types A and B in Greek patients.
    • To identify the geographical distribution of identified Sanfilippo disease types within Greece.

    Main Methods:

    • Fibroblast cultures were established from skin biopsies of suspected Sanfilippo disease patients.
    • Enzyme activity assays were performed for N-acetyl-a-glucosaminidase (Sanfilippo B) and sulfamidase (Sanfilippo A).

    Main Results:

    • Eleven patients with Sanfilippo disease were diagnosed.
    • Ten patients were identified as Sanfilippo disease type B, and one as type A.
    • The majority of type B patients originated from East-Central Greece, Thessaly, and Macedonia, while the type A patient's parents were from the Greek community in Turkey.

    Conclusions:

    • This study observed a higher frequency of Sanfilippo disease type B compared to type A in the Greek population studied.
    • The findings suggest potential regional variations in the prevalence of Sanfilippo disease subtypes.
    • Further investigation is warranted to ascertain if this higher prevalence of type B extends to other Mediterranean countries.

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