Book description
Awareness of lysomal storage disorders needs to be raised and there
is very substantial pharmaceutical interest to do so. The disorders
are often viewed as obscurities but in fact they are treatable. Enzyme
replacement therapy is available for four of the disorders and will be
available for a further three disorders in the course of the next
year. Substrate reduction therapy is licensed for one of them but in
the course of the next 12 months it will be licensed for two others
and a new form of substrate reduction therapy is being introduced.
These diseases present to a very wide range of physicians and
paediatricians. Gaucher disease may present to orthopaedic surgeons or
haematologists with splenomegaly and/or skeletal disease. However,
paediatricians see the childhood variants of Gaucher disease and
therefore may present it to neurologists. Fabry disease typically does
not present in childhood but presents to adult physicians with end
organ damage (renal failrure, cardiac disease, stroke, neuropathy,
gastrointestinal symptoms). A text book would draw 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 specific therapy and is
likely to be treatable with gene therapy within the coming five years.
New advances in small molecule therapy - e. g. chaperone treatment,
modified antibiotics affecting ribosomal function - are likely to be
useful for these diseases in the near future. Trials are already
underway. These diseases therefore offer a fabulous platform for
teaching modern clinical science from basic genetics right the way
through to clinical applications.
