- Email: [email protected]
Congenital Metabolic Diseases: Diagnosis and Treatment
Mayo Clin Proc, January 1986, Vol 61
macronutrient and micronutrient requirements, are discussed in relationship to the needs of the fetus, the mother, or both. Optimizing fetal growth by acquiring a better understanding of maternal-fetal nutritional requirements is presented as a challenge to the reader. Although this section includes descriptions of biochemical, physiologic, and metabolic adaptations that may be tedious to read, it is, in my opinion, the stronger of the two sections. Section two provides chapter reviews of specific but unrelated subjects, such as water as a major nutrient, absorption of fat in the premature infant, breast-feeding and growth, protein-energy malnutrition update, infection and nutrition, types of rickets ("old and new"), and dietary treatment of insulin-dependent diabetes. Each of these chapters includes a thorough review and nutritional support applications of the topics described. Throughout the book, numerous tables and figures augment the concepts presented. An extensive list of current references is cited in each chapter. All health professionals who are responsible for the care of infants, children, or pregnant women will find this volume a useful resource for enhancing their knowledge.
Diane M. Huse, M.S. Dietitian, Department of Pediatrics
Congenital Metabolic Diseases: Diagnosis and Treat ment (Clinical Pediatrics, Vol 2), edited by Raul A. Wapnir, 429 pp, with illus, $75, New York, Marcel Dekker, 1985 This second volume of Clinical Pediatrics is part of a series that is designed to update the knowledge of practicing pediatric specialists and to provide state-of-the-art reviews. The book is a collection of invited papers that were presented at a conference held at the North Shore University Hospital in Manhasset, New York, in honor of Sir Archibald Edward Garrod on the 75th anniversary of his Croonian Lectures to the Royal College of Physicians in 1908. The book is not a comprehensive reference text that the practicing clinician could consult for assistance with the diagnosis or treatment of a rare inborn error of metabolism. Rather, selected aspects of certain metabolic diseases are discussed in depth. The book is divided into eight parts. In part 1, the concepts proposed by Sir Archibald Garrod are discussed
BOOK REVIEWS
79
and applied to our current understanding of metabolic disease. Part 2 is composed of two chapters in which new approaches to the diagnosis and treatment of genetic diseases are outlined. In the first chapter, the uses of restriction enzymes in the study and diagnosis of genetic diseases are described. Because the chapter is extremely brief, the usefulness and full significance of these techniques may be unclear to the average pediatrician. The thalassemia model in the second chapter of this section provides an explanation of genetic heterogeneity. The biochemical defects that cause thalassemia are clearly described in considerable detail. The practicing pediatrician, however, may have appreciated further comment on how this information should be used for genetic screening of certain ethnic groups and for prenatal diagnosis. The screening of newborns for genetic metabolic diseases is discussed in part 3. The history of screening of newborns is outlined, and criteria for an effective screening program are reviewed. Useful clinical information, however—such as the probability of false-positive or false-negative results and the measures that should be considered in newborns in whom genetic metabolic diseases are detected—is not included. The last five sections deal with categories of metabolic diseases: amino acid disorders, disorders of energy metabolism, storage diseases, defects in membrane transport and receptors, and inborn errors of purine metabolism and urea synthesis. The contributors to these five sections discuss selected diseases or particular aspects of specific diseases in detail. Some of the chapters, such as the one on glycerol intolerance and another on defects of purine metabolism in immunodeficiency diseases, are particularly noteworthy because of their completeness and because reviews of these topics are not readily found elsewhere. Some of the other contributions, such as the summary of enzyme replacement in lipid storage disorders and the review of carbohydrate intolerance, are also well written and represent an accurate state of the art of subjects.that pertain to clinical practice. A few of the chapters, such as the one on the glycogen storage diseases, describe enzyme data in intricate detail but provide virtually no information about clinical features or treatment of the diseases. Approximately half of this book is devoted to clinical information that pediatricians will find helpful. A substantial portion of the book presents detailed data on enzymes and biochemical considerations for clinicians who are interested in the basis of inherited metabolic diseases. Although this volume is part of a series on clinical pediatrics, several of the chapters (for example, those that deal with enzyme replacement trials in Gaucher disease, insulin receptors, cystinuria, and car-
80
BOOK REVIEWS
Mayo Clin Proc, January 1986, Vol 61
bohydrate intolerance) are appropriate for internists and obstetricians as well. Indeed, because many pediatric patients with rare metabolic diseases survive into adulthood, it is increasingly important for internists and obstetricians to be aware of these diseases. This up-to-date, clearly written book is not a reference source that discusses most of the important clinical aspects of congenital metabolic diseases. Nevertheless, I recommend it to clinicians or nutritionists who are interested in this field. Virginia V. Michels, M.D. Department of Medical Genetics
Diabetes Mellitus: Management and Complications (Contemporary Issues in Endocrinology and Metabolism, Vol 1), edited byJerroldM. Olefsky and Roberts. Sherwin, 399 pp, with illus, $48, New York, Churchill Livingstone (distributed by Longman, White Plains, New York), 1985 This book is the first in a series entitled Contemporary Issues in Endocrinology and Metabolism. The small size and focused subject matter of the volume will appeal to those who like to read a book from cover to cover. Some readers may question the selection of management and complications from the broad field of diabetes for the thrust of the book. The pairing of these two areas was clearly an editorial decision, and the net result is certainly acceptable. The intellectual and scientific " g l u e " that holds the chapters together is provided in chapter 1, "Metabolic Control and Diabetic Complications." Although the book includes many outstanding chapters, I found this one to be the high point of the volume. Because the book is small, I had hoped that the material would be well organized and that the overall impression would exceed the impact of the sum of the individual chapters. The volume, however, is actually a reference work that has the characteristic overlap among chapters, especially in regard to the relationship between the control of diabetes and the development of complications. Perhaps this overlap is intentional, a means of reinforcing the promise of the title. Chapter 2 is stylistically different from the other chapters because of its " h o w - t o " approach. In addition, the reference format deviates considerably from that used in the rest of the book. In fact, references are not provided, simply a bibliography—an unfortunate arrangement be-
cause several statements made in this chapter should have been supported by citation of published works. Publishers of medical books should realize that color photographs are necessary for appropriate representation of certain anatomic parts (for example, the retina) or accurate interpretation of pathologic changes (for example, skin lesions). Black and white photographs are simply inadequate. The book has probably not been written that does not contain some errors. In this one, the author of the chapter on kidney disease errs in stating that all hemodialysis solutions are devoid of glucose. In addition, the dose of fludrocortisone (Florinef) proposed for the treatment of orthostatic hypotension is considerably less than that usually recommended. The chapter that deals with pregnancy and diabetes contains no discussion of gestational diabetes, and the author mistakenly equates split/mixed insulin treatment with intensive insulin therapy. As stated previously, this book contains many excellent individual chapters about specific complications of diabetes and associated problems from which readers may select topics of particular interest. Despite the aforementioned minor problems, it should serve as a useful reference source. F. John Service, M.D. Division of Endocrinology/Metabolism and Internal Medicine
Common Surgical Problems: The Surgical Practice of the Cleveland Clinic, edited by Robert E. Hermann, 516 pp, with illus, $44.95, Chicago, Year Book Medical Publishers, 1985 Review of this book was unusually difficult because the entire volume was bound upside down! This error in binding, though, was one of the few flaws in this otherwise delightful contribution by Robert Hermann and 37 of his colleagues at the Cleveland Clinic. As the subtitle suggests, this volume is not about common surgical problems encountered by the average general surgeon; rather, it is an exposition of "the surgical practice of the Cleveland Clinic." In 26 succinct chapters, topics that range from preoperative assessment of operative risk to musculocutaneous flaps and microvascular surgical procedures to the surgical intensive care unit are presented. The authors and illustrators are to be congratulated for the clarity and readability that are evident throughout the volume. Two classic chapters by Esselstyn and associates on surgical
macronutrient and micronutrient requirements, are discussed in relationship to the needs of the fetus, the mother, or both. Optimizing fetal growth by acquiring a better understanding of maternal-fetal nutritional requirements is presented as a challenge to the reader. Although this section includes descriptions of biochemical, physiologic, and metabolic adaptations that may be tedious to read, it is, in my opinion, the stronger of the two sections. Section two provides chapter reviews of specific but unrelated subjects, such as water as a major nutrient, absorption of fat in the premature infant, breast-feeding and growth, protein-energy malnutrition update, infection and nutrition, types of rickets ("old and new"), and dietary treatment of insulin-dependent diabetes. Each of these chapters includes a thorough review and nutritional support applications of the topics described. Throughout the book, numerous tables and figures augment the concepts presented. An extensive list of current references is cited in each chapter. All health professionals who are responsible for the care of infants, children, or pregnant women will find this volume a useful resource for enhancing their knowledge.
Diane M. Huse, M.S. Dietitian, Department of Pediatrics
Congenital Metabolic Diseases: Diagnosis and Treat ment (Clinical Pediatrics, Vol 2), edited by Raul A. Wapnir, 429 pp, with illus, $75, New York, Marcel Dekker, 1985 This second volume of Clinical Pediatrics is part of a series that is designed to update the knowledge of practicing pediatric specialists and to provide state-of-the-art reviews. The book is a collection of invited papers that were presented at a conference held at the North Shore University Hospital in Manhasset, New York, in honor of Sir Archibald Edward Garrod on the 75th anniversary of his Croonian Lectures to the Royal College of Physicians in 1908. The book is not a comprehensive reference text that the practicing clinician could consult for assistance with the diagnosis or treatment of a rare inborn error of metabolism. Rather, selected aspects of certain metabolic diseases are discussed in depth. The book is divided into eight parts. In part 1, the concepts proposed by Sir Archibald Garrod are discussed
BOOK REVIEWS
79
and applied to our current understanding of metabolic disease. Part 2 is composed of two chapters in which new approaches to the diagnosis and treatment of genetic diseases are outlined. In the first chapter, the uses of restriction enzymes in the study and diagnosis of genetic diseases are described. Because the chapter is extremely brief, the usefulness and full significance of these techniques may be unclear to the average pediatrician. The thalassemia model in the second chapter of this section provides an explanation of genetic heterogeneity. The biochemical defects that cause thalassemia are clearly described in considerable detail. The practicing pediatrician, however, may have appreciated further comment on how this information should be used for genetic screening of certain ethnic groups and for prenatal diagnosis. The screening of newborns for genetic metabolic diseases is discussed in part 3. The history of screening of newborns is outlined, and criteria for an effective screening program are reviewed. Useful clinical information, however—such as the probability of false-positive or false-negative results and the measures that should be considered in newborns in whom genetic metabolic diseases are detected—is not included. The last five sections deal with categories of metabolic diseases: amino acid disorders, disorders of energy metabolism, storage diseases, defects in membrane transport and receptors, and inborn errors of purine metabolism and urea synthesis. The contributors to these five sections discuss selected diseases or particular aspects of specific diseases in detail. Some of the chapters, such as the one on glycerol intolerance and another on defects of purine metabolism in immunodeficiency diseases, are particularly noteworthy because of their completeness and because reviews of these topics are not readily found elsewhere. Some of the other contributions, such as the summary of enzyme replacement in lipid storage disorders and the review of carbohydrate intolerance, are also well written and represent an accurate state of the art of subjects.that pertain to clinical practice. A few of the chapters, such as the one on the glycogen storage diseases, describe enzyme data in intricate detail but provide virtually no information about clinical features or treatment of the diseases. Approximately half of this book is devoted to clinical information that pediatricians will find helpful. A substantial portion of the book presents detailed data on enzymes and biochemical considerations for clinicians who are interested in the basis of inherited metabolic diseases. Although this volume is part of a series on clinical pediatrics, several of the chapters (for example, those that deal with enzyme replacement trials in Gaucher disease, insulin receptors, cystinuria, and car-
80
BOOK REVIEWS
Mayo Clin Proc, January 1986, Vol 61
bohydrate intolerance) are appropriate for internists and obstetricians as well. Indeed, because many pediatric patients with rare metabolic diseases survive into adulthood, it is increasingly important for internists and obstetricians to be aware of these diseases. This up-to-date, clearly written book is not a reference source that discusses most of the important clinical aspects of congenital metabolic diseases. Nevertheless, I recommend it to clinicians or nutritionists who are interested in this field. Virginia V. Michels, M.D. Department of Medical Genetics
Diabetes Mellitus: Management and Complications (Contemporary Issues in Endocrinology and Metabolism, Vol 1), edited byJerroldM. Olefsky and Roberts. Sherwin, 399 pp, with illus, $48, New York, Churchill Livingstone (distributed by Longman, White Plains, New York), 1985 This book is the first in a series entitled Contemporary Issues in Endocrinology and Metabolism. The small size and focused subject matter of the volume will appeal to those who like to read a book from cover to cover. Some readers may question the selection of management and complications from the broad field of diabetes for the thrust of the book. The pairing of these two areas was clearly an editorial decision, and the net result is certainly acceptable. The intellectual and scientific " g l u e " that holds the chapters together is provided in chapter 1, "Metabolic Control and Diabetic Complications." Although the book includes many outstanding chapters, I found this one to be the high point of the volume. Because the book is small, I had hoped that the material would be well organized and that the overall impression would exceed the impact of the sum of the individual chapters. The volume, however, is actually a reference work that has the characteristic overlap among chapters, especially in regard to the relationship between the control of diabetes and the development of complications. Perhaps this overlap is intentional, a means of reinforcing the promise of the title. Chapter 2 is stylistically different from the other chapters because of its " h o w - t o " approach. In addition, the reference format deviates considerably from that used in the rest of the book. In fact, references are not provided, simply a bibliography—an unfortunate arrangement be-
cause several statements made in this chapter should have been supported by citation of published works. Publishers of medical books should realize that color photographs are necessary for appropriate representation of certain anatomic parts (for example, the retina) or accurate interpretation of pathologic changes (for example, skin lesions). Black and white photographs are simply inadequate. The book has probably not been written that does not contain some errors. In this one, the author of the chapter on kidney disease errs in stating that all hemodialysis solutions are devoid of glucose. In addition, the dose of fludrocortisone (Florinef) proposed for the treatment of orthostatic hypotension is considerably less than that usually recommended. The chapter that deals with pregnancy and diabetes contains no discussion of gestational diabetes, and the author mistakenly equates split/mixed insulin treatment with intensive insulin therapy. As stated previously, this book contains many excellent individual chapters about specific complications of diabetes and associated problems from which readers may select topics of particular interest. Despite the aforementioned minor problems, it should serve as a useful reference source. F. John Service, M.D. Division of Endocrinology/Metabolism and Internal Medicine
Common Surgical Problems: The Surgical Practice of the Cleveland Clinic, edited by Robert E. Hermann, 516 pp, with illus, $44.95, Chicago, Year Book Medical Publishers, 1985 Review of this book was unusually difficult because the entire volume was bound upside down! This error in binding, though, was one of the few flaws in this otherwise delightful contribution by Robert Hermann and 37 of his colleagues at the Cleveland Clinic. As the subtitle suggests, this volume is not about common surgical problems encountered by the average general surgeon; rather, it is an exposition of "the surgical practice of the Cleveland Clinic." In 26 succinct chapters, topics that range from preoperative assessment of operative risk to musculocutaneous flaps and microvascular surgical procedures to the surgical intensive care unit are presented. The authors and illustrators are to be congratulated for the clarity and readability that are evident throughout the volume. Two classic chapters by Esselstyn and associates on surgical