Clinical Guide to Inherited Metabolic Diseases

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 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 includes much 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.

'… should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders.' American Journal of Medical Genetics, 'In short, this is an excellent guide to metabolic disease; it represents good value for money and, I suspect, will be more likely found in the owner's pocket rather than on the shelf. It is recommended not only to the 'busy physician' and trainee, but to all those with an interest in metabolic disease.' Journal of Inherited Metabolic Disease, 'The writing is lucid, direct and salted with personal observations. Clarke's teaching skills shine forth from each page … It succeeds admirably, effectively demystifying the anxiety-provoking world of inherited biochemical illness.' Canadian Medical Association Journal, '… 280-page clinical guide … On the whole, I found this to be an amazing book which contains a vast amount of information presented in a concise, logical and well-organized fashion … I would recommend this book wholeheartedly to anyone involved in the diagnosis of inherited metabolic diseases.' Journal of Genetic Counseling, 'Dr Clarke's enthusiasm and erudition are evident on every page of this book.' Archives of Diseases of Childhood