Genetic insights Metabolics

Lysosomal storage disorders (LSDs) comprise a group of nearly 60 different diseases, originated by inherited defects in proteins essential for normal lysosomal function. There is a growing number of protein deficiencies that result from mutations causing misfolded protein conformation. Although individually rare, in aggregate the LSDs occur in at least 1/5000 live births, although the true frequencies are not fully known. Many tissues and organs are affected in these diseases and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosing.

Recent years have shown a growing appreciation for the view that understanding the pathogenesis of such complex diseases holds the key to successful treatment. The medical goals of both epidemiological studies and genetic analysis are to improve risk prediction and to uncover causality. Definition of the suitable tests but also interpretation of the results should be made in the light of the clinical symptoms. Elucidating the basis for the link between the clinical phenotype and genotype correlation, and the factors contributing to reveal LSD frequency, provide new insights into the genetics, pathophysiology and therapeutic options available for rare diseases. These demand a precise epidemiological classification, for example multiple testing, sample size to have adequate power to discover an effect or definition of phenotypes.


Please see our updated statistical data on selected LSD cases.





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