Inherited Metabolic Diseases

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options.  ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

• DNA
• Inborn Errors of Metabolism
• biopsy
• care
• diagnosis
• differential diagnosis
• management
• medicine
• metabolic disease
• metabolic disorder
• metabolism
• prenatal diagnosis
• screening
• skin
• treatment

From the reviews:

“The authors have written a reader friendly and instructive textbook which is divided into 5 parts. … Highly illustrated with many tables. … An updated, very useful text.” (Pediatric Endocrinology Reviews, Vol. 7 (3), March-April, 2010)

“This is the eighth edition of an intense but easy to read textbook of genetics with detailed explanations of the concepts and logic behind the science of genes and genomes. … Designed for undergraduate students, this book provides a concise and logical base for individuals who may pursue careers in genetics. … The authors are well recognized authorities in human genetics. … Congratulations to the authors for this unique textbook. The art of teaching genetics is well served by their contribution.” (Luis F. Escobar, Doody’s Review Service, February, 2012)

• University Children's Hospital, Ruprecht-Karls-University, Heidelberg, Germany

  Georg F. Hoffmann

• Divisions of Human Genetics and Clinical Genetics, Medical University Innsbruck, Innsbruck, Austria

  Johannes Zschocke

• San Diego School of Medicine, Department of Pediatrics, University of California, La Jolla, USA

  William L. Nyhan

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