Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology

Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology Ever since the great child care physician, Alexander Garrod, coined the term inborn errors of metabolism and thereby became the Father of Chemical Genetics, there has been a need for a book that integrates the cornerstones of the field—namely, clinical medicine, pathology, biochemistry/nutrition, and genetics. A variety of other books, including The Metabolic and Molecular Bases of Inherited Disease, have attempted to present this knowledge but have achieved variable success because of the complexity of the subject matter and heterogeneity of authors and writing styles. On the other hand, Drs Enid Gilbert-Barness and Lew Barness have married their intellectual and writing talents to produce what will become the "Bible of Biochemical Genetics." As in the case of the Good Book, there are 2 components (volumes), but both can be considered the New Testament because of the contemporary, comprehensive descriptions of hereditary metabolic disorders. Each volume provides approximately 400 pages of narrative on the various hereditary metabolic disturbances and the resultant diseases. There are 14 chapters in volume I and 13 in volume II. The latter also provides the latest gene maps and 8 well-organized, informative appendices. The chapters follow a logical sequence from single molecular defects, such as hereditary disturbances in amino acid metabolism, to more complex molecular disorders. Introductory material in volume I on "Approach to Diagnosis of Metabolic Diseases" (chapter 1) and on "Prenatal Diagnosis and Newborn Screening" (chapter 2) set the stage and display the two authors' keen insights on diagnosis—every physician's first duty. General strategies of diagnosis, as well as treatment, are presented in appendix VIII. Indeed, the clear descriptions of the best diagnostic methods are clearly one of the book's great achievements and is exactly what one would expect from the Drs Barness. Lew has arguably been the finest diagnostician in the history of American pediatrics, and Enid always gets (and deserves) the last word. All the chapters are logically organized and well illustrated. The tables are superb and will be an extraordinary resource for medical school lecturers. Volume I presents a description of disorders associated with enzyme deficiencies affecting the metabolism of amino acids, fatty acids, and carbohydrates. Each chapter consistently and clearly describes clinical features, underlying pathophysiology, the metabolic disturbance, pathologic abnormalities, and therapeutic strategies. Scientific information is presented logically and coherently. The uniformity of descriptions regarding metabolic diseases is an outstanding feature and distinguishes this book from others. Although basic and clinical research is advancing rapidly and increasing our understanding of many metabolic disorders, volume I clearly is current and probably will not become outdated for several years. Volume II offers chapters focused on complex disorders that are especially challenging because their biochemistry extends beyond metabolite alterations. These include disorders of collagen metabolism, congenital endocrinopathies, metabolic cardiopathies, erythrocyte disturbances, and neuromuscular diseases. I paid particular attention to the chapter on cystic fibrosis because of my special interest in that disorder and my concern that its fast-moving research fronts be covered adequately in a reference book. I can only offer my congratulations to the authors for their success in describing the salient aspects of cystic fibrosis care and research. Moreover, there is no single article on cystic fibrosis pathology that is more informative and coherent—a remarkable accomplishment in a 22-page chapter. Even the "Treatment" section is complete, accurate, and useful for clinicians. The narrative of volume II closes with a chapter on "Gene Therapy" that is well written, beautifully illustrated, and inspiring; it also provides a list of Internet resources for physicians and a list of Web sites for patients and the general public. Volume II is also noteworthy for its appendices. The appendix covering "The Metabolic Disease Autopsy" is unique and reflects Dr Gilbert-Barness' decades of experience in pediatric pathology and her careful attention to detail. I also liked the appendix on "Nutritional Aids for Some Metabolic Diseases" and the description of "Laboratories Performing Specialized Studies" (including the Internet sites of the various laboratories). Readers might ask, What is this "Bible of Biochemical Genetics" missing? The answer is not much. Yet, I would have liked to have read more about the history of discoveries on each hereditary metabolic disorder—both the clinical and pathobiochemical perspective; however, a review of history is presented briefly in chapter 1, and more discussion would have detracted from the book's strength of focus that is displayed consistently. I would also have enjoyed a chapter on genetic counseling—a surprisingly underdeveloped field. This would have complemented the first 2 chapters on diagnosis and the excellent discussions of prenatal diagnosis and risk for recurrence. This book should become the standard in biochemical genetics and serve most of our needs for many years to come. Both volumes will be of great interest to all pediatric geneticists, genetic counselors, neonatologists, and health care providers concerned with newborn screening programs. Congratulations to Drs Barness and Gilbert-Barness for sharing the value of their marriage and their encyclopedic minds with all of us. Alexander Garrod would be delighted to learn that one century following his great discoveries, the Drs Barness succeeded in communicating all there is to know about inborn errors of metabolism. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Pediatrics & Adolescent Medicine American Medical Association

Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology

Loading next page...
 
/lp/american-medical-association/metabolic-diseases-foundations-of-clinical-management-genetics-and-yJBWZayRfL
Publisher
American Medical Association
Copyright
Copyright © 2001 American Medical Association. All Rights Reserved.
ISSN
1072-4710
eISSN
1538-3628
DOI
10.1001/archpedi.155.5.621
Publisher site
See Article on Publisher Site

Abstract

Ever since the great child care physician, Alexander Garrod, coined the term inborn errors of metabolism and thereby became the Father of Chemical Genetics, there has been a need for a book that integrates the cornerstones of the field—namely, clinical medicine, pathology, biochemistry/nutrition, and genetics. A variety of other books, including The Metabolic and Molecular Bases of Inherited Disease, have attempted to present this knowledge but have achieved variable success because of the complexity of the subject matter and heterogeneity of authors and writing styles. On the other hand, Drs Enid Gilbert-Barness and Lew Barness have married their intellectual and writing talents to produce what will become the "Bible of Biochemical Genetics." As in the case of the Good Book, there are 2 components (volumes), but both can be considered the New Testament because of the contemporary, comprehensive descriptions of hereditary metabolic disorders. Each volume provides approximately 400 pages of narrative on the various hereditary metabolic disturbances and the resultant diseases. There are 14 chapters in volume I and 13 in volume II. The latter also provides the latest gene maps and 8 well-organized, informative appendices. The chapters follow a logical sequence from single molecular defects, such as hereditary disturbances in amino acid metabolism, to more complex molecular disorders. Introductory material in volume I on "Approach to Diagnosis of Metabolic Diseases" (chapter 1) and on "Prenatal Diagnosis and Newborn Screening" (chapter 2) set the stage and display the two authors' keen insights on diagnosis—every physician's first duty. General strategies of diagnosis, as well as treatment, are presented in appendix VIII. Indeed, the clear descriptions of the best diagnostic methods are clearly one of the book's great achievements and is exactly what one would expect from the Drs Barness. Lew has arguably been the finest diagnostician in the history of American pediatrics, and Enid always gets (and deserves) the last word. All the chapters are logically organized and well illustrated. The tables are superb and will be an extraordinary resource for medical school lecturers. Volume I presents a description of disorders associated with enzyme deficiencies affecting the metabolism of amino acids, fatty acids, and carbohydrates. Each chapter consistently and clearly describes clinical features, underlying pathophysiology, the metabolic disturbance, pathologic abnormalities, and therapeutic strategies. Scientific information is presented logically and coherently. The uniformity of descriptions regarding metabolic diseases is an outstanding feature and distinguishes this book from others. Although basic and clinical research is advancing rapidly and increasing our understanding of many metabolic disorders, volume I clearly is current and probably will not become outdated for several years. Volume II offers chapters focused on complex disorders that are especially challenging because their biochemistry extends beyond metabolite alterations. These include disorders of collagen metabolism, congenital endocrinopathies, metabolic cardiopathies, erythrocyte disturbances, and neuromuscular diseases. I paid particular attention to the chapter on cystic fibrosis because of my special interest in that disorder and my concern that its fast-moving research fronts be covered adequately in a reference book. I can only offer my congratulations to the authors for their success in describing the salient aspects of cystic fibrosis care and research. Moreover, there is no single article on cystic fibrosis pathology that is more informative and coherent—a remarkable accomplishment in a 22-page chapter. Even the "Treatment" section is complete, accurate, and useful for clinicians. The narrative of volume II closes with a chapter on "Gene Therapy" that is well written, beautifully illustrated, and inspiring; it also provides a list of Internet resources for physicians and a list of Web sites for patients and the general public. Volume II is also noteworthy for its appendices. The appendix covering "The Metabolic Disease Autopsy" is unique and reflects Dr Gilbert-Barness' decades of experience in pediatric pathology and her careful attention to detail. I also liked the appendix on "Nutritional Aids for Some Metabolic Diseases" and the description of "Laboratories Performing Specialized Studies" (including the Internet sites of the various laboratories). Readers might ask, What is this "Bible of Biochemical Genetics" missing? The answer is not much. Yet, I would have liked to have read more about the history of discoveries on each hereditary metabolic disorder—both the clinical and pathobiochemical perspective; however, a review of history is presented briefly in chapter 1, and more discussion would have detracted from the book's strength of focus that is displayed consistently. I would also have enjoyed a chapter on genetic counseling—a surprisingly underdeveloped field. This would have complemented the first 2 chapters on diagnosis and the excellent discussions of prenatal diagnosis and risk for recurrence. This book should become the standard in biochemical genetics and serve most of our needs for many years to come. Both volumes will be of great interest to all pediatric geneticists, genetic counselors, neonatologists, and health care providers concerned with newborn screening programs. Congratulations to Drs Barness and Gilbert-Barness for sharing the value of their marriage and their encyclopedic minds with all of us. Alexander Garrod would be delighted to learn that one century following his great discoveries, the Drs Barness succeeded in communicating all there is to know about inborn errors of metabolism.

Journal

Archives of Pediatrics & Adolescent MedicineAmerican Medical Association

Published: May 1, 2001

There are no references for this article.