Inborn Errors of Metabolism

Looks at the diagnosis, treatment and prevention of inherited metabolic disease. Provides an overview of these genetic disorders, looking at underlying mechanisms and highlighting progress in antenatal diagnosis and therapy, genetic counselling, dietetic and drug therapy and surgical treatment.

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This addresses one of the major challenges of medicine: the diagnosis, treatment and prevention of inherited metabolic diseases. Experts in clinical practice and research provide an overview of all aspects of these genetic disorders, elucidating the underlying mechanisms and highlighting progress in antenatal diagnosis and therapy, genetic counseling, dietetic and drug therapy, and surgical treatment by cell and organ transplantation. The contributors review our knowledge of diseases of fatty acid oxidation, examine the relation between these diseases amd the sudden infant death syndrome and present findings on amino acid, ammonia and neurotransmitter diseases and disorders of carbohydrate metabolism. Attention is given to the problems of preventing fetal damage in pregnant women with phenylketonuria and improving the results of dietetic therapy for galactosemia. Specialists detail the indications for liver transplantation and explain how displacement bone marrow transplantation can correct some inborn errors of metabolism. The book concludes with a report on new approaches to human gene therapy.