This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inheritedmetabolic 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 into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includesmuch greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Dr J. T. R. Clarke is Professor of Paediatrics at the University of Toronto and a Senior Associate Scientist in the Research Institute of the Hospital for Sick Children, as well as continuing Head of the GeneticMetabolic Diseases Programof the Hospital. He is a Fellow of the Royal College ofPhysicians of Canada and the Canadian College of Medical Geneticists. He has won awards for postgraduate paediatric teaching and for excellence in paediatric medical care. He is consulted extensively by government and industry on matters relating to the management of inherited metabolic diseases and newborn screening. He is internationally respected for his expertise in the general area ofmetabolic genetics and is widely sought as a speaker and educator in this field. He has given over 100 invited lectures on inherited metabolic diseases in countries around the globe.