This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized
This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis. It is a well-illustrated text that is organized around the clinical presentation of the disease.