| Summary: | 4 Conclusion As discussed before, lysosomď disorders can provide clues about the function of a deÍicient protein and about important cellular mechanisms. Because of that it is worthwhile to study patients with these rare disorders and learn from complex disease manifestations at biochemicď, morphologicď and molecular levels. This thesis is accompanied with papers on sphingolipidoses, the most frequent group of lysosomď disorders, and a mucopolysaccharidosis. The core of the thesis is anďysis of the molecular causes of diseases in relation to clinical manifestations. There is a practicď application to that, because enzyrne replacement therapy, an effective, but extremely expensive treatment, is avďlable for severď of lysosomď storage disorders. Prediction of the future severity of the disease can identiý patients, who can benefit most from the treatment. There is a trend to preventive treatment which can stop development of irreversible changes in the patients tissues. Because of excessive costs of the treatment even the richest countries do not treat ďl patients with these diseases. In Fabry disease we have shown for the first time that X-inactivation influences the severity of the disease in heterozygous femďes. Analysis of irractivation has a potentiď to become a predictive test in Fabry femďes - this,...
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