Lysosomal Storage Disorders PDF Free Download
Awareness of lysomal storage disorders needs to be raised andthere is very substantial pharmaceutical interest to do so. Thedisorders are often viewed as obscurities but in fact they aretreatable. Enzyme replacement therapy is available for four of thedisorders and will be available for a further three disorders inthe course of the next year. Substrate reduction therapy islicensed for one of them but in the course of the next 12 months itwill be licensed for two others and a new form of substratereduction therapy is being introduced.
These diseases present to a very wide range of physicians andpaediatricians. Gaucher disease may present to orthopaedic surgeonsor haematologists with splenomegaly and/or skeletal disease.However, paediatricians see the childhood variants of Gaucherdisease and therefore may present it to neurologists. Fabry diseasetypically does not present in childhood but presents to adultphysicians with end organ damage (renal failrure, cardiac disease,stroke, neuropathy, gastrointestinal symptoms). A text book woulddraw these divergent strands together.
There is substantial scientific interest in these diseases.Gaucher is well recognised as a paradigm of a molecular illness,understood at a basic level which is treatable now with specifictherapy and is likely to be treatable with gene therapy within thecoming five years. New advances in small molecule therapy –e.g. chaperone treatment, modified antibiotics affecting ribosomalfunction – are likely to be useful for these diseases in thenear future. Trials are already underway. These diseases thereforeoffer a fabulous platform for teaching modern clinical science frombasic genetics right the way through to clinical applications.
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- Lysosomal Storage Disorders PDF