Joe T. R. Clarke

I've read most of this book several times in the three weeks since I started my new role as a metabolism and genetics fellow.
In the weeks leading up to starting fellowship, I read this book once and was quite enchanted with how succinct and well-laid out it was. Once I started seeing patients; however, this book just doesn't cut it. It is much more a biochemical text with a few clinical pearls. Many relevant clinical details are completely absent. To be fair, many relevant biochemical details are also completely absent (want to know why glycine is high in MMA and PA? This book won't tell you.) Information about any given disease is scattered through many chapters. Sorting the book by organ system involvement makes some sense, but then diseases that are biochemically related, such as mitochondrial diseases, are splayed throughout. Also, to be done that way, the book should commit -- I would expect a list of diseases that can cause epilepsy or liver failure, etc.
So why three stars? Because I haven't found a better alternative, especially not for the price. My coworkers make fun of me, because I spend a lot of time with MMBID up in my browser, at least one review article printed out on my lab, a basic biochemistry textbook on one desk, handdrawn diagrams up on my whiteboard and this book on my other desk. As long as it's part of that multi-reference puzzle, it deserves three stars. That being said, I would love to have one go-to reference.… (plus d'informations)