By John Nolte

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A classification based on molecular defects in the lysosomal system focuses attention on function, pathogenetic mechanisms and the development of logical forms of therapy. g. some neurological disorders (see Chapter 1), have become blurred with dysfunction of the lysosomal system playing a wider role in disease processes. A scheme based on molecular cell defects can accommodate new classes of lysosomal disorders as they are recognized. Acknowledgements Members of the European Study Group on Lysosomal Diseases (ESGLD) are thanked for their comments on this Classification, which was presented for discussion at their meeting in Finland in September 2011.

Counselling issues For counselling, it is important to understand the nature of LSD pathology. Once an individual’s LSD protein deficiency and/or genotype are known, genetic counselling should ideally include the prediction of likely clinical phenotype, identification of carriers in the family and those at risk, knowledge of the availability and efficacy of therapies and prediction of clinical progression in patients diagnosed before obvious symptoms are apparent. One final but critical question is whether the CNS is likely to become involved.

Digital microfluidics will permit more enzyme assays to be carried out on a single dried blood spot [17] and the same technology can be used for immunodetection of proteins and DNA analysis. However, these technological advances will still require skilled and experienced laboratory staff to interpret the data to make the diagnosis. Acknowledgements The author is very grateful to Elisabeth Young, Jan-Eric Månnson and Ed Wraith for their helpful comments after reading the manuscript. He acknowledges the dedication, experience and friendship of his colleagues in the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital, London, with whom he worked for many years and without whom this chapter could not have been written.

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