Inherited Metabolic Diseases

Georg F. Hoffmann, Dr.med.habil, MD, is Professor and Chairman of the University Childrens Hospital Heidelberg, Head of the Metabolic Center including the Newborn Screening Laboratory as well as Head of the Center for Rare Diseases, Medical Center University of Heidelberg Germany. He has been working in the field of diagnosis and treatment of patients with inherited metabolic diseases for over 30 years with the main emphasis on newborn screening as well as clinical and laboratory research on neurometabolic and intoxication type disorders (neurotransmitter defects, aminoacidopathies, organoacidopathies, and urea cycle disorders).Johannes Zschocke, Dr.med.habil, PhD is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria, and is Director of the Division for Human Genetics and the Center for Medical Genetics Innsbruck. He has longstanding clinical and research experience in inherited metabolic diseases, with special expertise in genetic diagnosis and genotype-phenotype correlations.  William L. Nyhan, MD, PhD is Distinguished Professor of Pediatrics and Director of the Biochemical Genetics Laboratory at the University of California San Diego. He is the author of 655 publications, including the Atlas of Inherited Metabolic Diseases and is a Board Member of Lesch-Nyhan Syndrome Children’s Research Foundation, 1995 to present.

Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism.- Mitochondriopathies Neurotransmitter Defects.-Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease.- Patient Care and Treatment.- Metabolic Emergencies.- Anesthesia and Metabolic Disease.- Principles of Dietary Therapy.- Principles of Enzyme Replacement Therapy.- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease.- Liver Disease.- Gastrointestinal and General Abdominal Symptoms.- Kidney Disease and Electrolyte Disturbances.- Neurological Disease.- Metabolic Myopathies.- Psychiatric Disease.- Eye Disorder.- Skin and Hair Disorders.- Bone Disorders.- Physical Abnormalities in Metabolic Diseases.- Hematological Disorders.- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening.- Biochemical Studies.- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases.- Molecular Investigations (DNA Studies).- Pathology / Biopsy.- Postmortem Investigations.- Neuroimaging.- Function Tests.- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes.- Reference Books.- E3 Internet Resources.

"This volume is very timely as new genetic methods have advanced our knowledge on these diseases, on their etiology, and new therapies have been developed. ...  A clearly written text, with many tables and appropriate references. Highly recommended to neonatologists, geneticists, pediatricians and biochemists." (Zvi Laron, Pediatric Endocrinology Reviews (PER), Vol. 14 (3), March, 2017)

"The editors ... have assembled a talented group of contributors, with impeccable credentials in their areas of specialization. ... The writing is succinct and accessible, and a remarkable amount of useful information is contained within 45 compact chapters. ... The thoughtful use of tables, figures, and lists provides important details without overwhelming the non-specialist reader. ... This book should be close to hand for any clinician who sees patients with inborn metabolic diseases." (Marc Patterson, Journal of Inherited Metabolic Disease, Vol. 40, 2017)