Laboratory Guide to the Methods in Biochemical Genetics

This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

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Tis book, which is authore d by numerous authoritie p s,resent sas a stand-alone handbook for those working in the feld of human biochemica l genetics I .t is a far cry from the day when ther e were rathe r simple description o sf side room tests a , s Garrod calle d them. Garrod recognize d patient s in whom ther ewere disruption s of dynamic b- chemistry t , ha t is of pathway sa , s we now know them. He also recognize d tha t the disruptio n could be inherited h ;ence his descriptiv t eerm inborn error s of metab- lism . Garrod used his test sto revea l chemica l individualit ya ,theme tha t do- nated his writin g and thinkin g throughou h tis lifetim eG . arrod described chemical phenotype s as they were reveale d in his patient s with inborn error s of metabolism. Garrod s observation is ntroduce a d new paradigm in medica l thinking. Te range and sophisticatio o nf the methods used to describ e the chemica l p- st notype at the beginning of the 21 centur y are very diferen t from those tha t were th availab lt eo Garrod at the beginning of the 20 century T . is new book describe s a spectrum of tests f , rom simple screenin g methods tha t we could al l do, to analytical methods tha t are dependent on technologi e ts ha t very few of us wil l ever use. Behind the chemica l phenotype is a biochemica p lhenotype T . e latte d rescribes disorde r in a dynamic function a ;ny functio n tha t modifes a molecul e or moves it from here to there H . ow to measure a functio n tha t can be disrupte d by a mutant gene is an importan t part of this laborato r gy uide.