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Nutrition Management Of Inherited Metabolic Diseases

Author: Laurie E. Bernstein
Publisher: Springer
ISBN: 3319146211
Size: 49.57 MB
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This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.

Nutrition Management Of Patients With Inherited Metabolic Disorders

Author: Phyllis B. Acosta
Publisher: Jones & Bartlett Publishers
ISBN: 1449617999
Size: 45.53 MB
Format: PDF
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5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.

Inherited Metabolic Diseases

Author: Georg F. Hoffmann
Publisher: Springer
ISBN: 3662494108
Size: 21.52 MB
Format: PDF, Mobi
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This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

Inborn Metabolic Diseases

Author: Jean-Marie Saudubray
Publisher: Springer
ISBN: 3662497719
Size: 29.69 MB
Format: PDF
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This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

Physician S Guide To The Treatment And Follow Up Of Metabolic Diseases

Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540289623
Size: 25.92 MB
Format: PDF, Mobi
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This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Nutrition In The Prevention And Treatment Of Disease

Author: Ann M. Coulston
Publisher: Academic Press
ISBN: 0128029471
Size: 70.72 MB
Format: PDF, ePub
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Nutrition in the Prevention and Treatment of Disease, Fourth Edition, is a compilation of current knowledge in clinical nutrition and an overview of the rationale and science base of its application to practice in the prevention and treatment of disease. In its fourth edition, this text continues the tradition of incorporating new discoveries and methods related to this important area of research Generating and analyzing data that summarize dietary intake and its association with disease are valuable tasks in treating disease and developing disease prevention strategies. Well-founded medical nutrition therapies can minimize disease development and related complications. Providing scientifically sound, creative, and effective nutrition interventions is both challenging and rewarding. Two new chapters on metabolomics and translational research, which have come to be used in nutrition research in recent years. The new areas of study are discussed with the perspective that the application of the scientific method is by definition an evolutionary process. A new chapter on Genetics and Diabetes which reviews the latest research on causal genetic variants and biological mechanisms responsible for the disease, and explores potential interactions with environmental factors such as diet and lifestyle. Includes all major "omics" – the exposome, metabolomics, genomics, and the gut microbiome. Expands the microbiota portions to reflect complexity of diet on gut microbial ecology, metabolism and health

Biomarkers In Inborn Errors Of Metabolism

Author: Uttam Garg
Publisher: Elsevier
ISBN: 0128029188
Size: 14.57 MB
Format: PDF, Kindle
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Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Inborn Errors Of Metabolism

Author: Brendan Lee
Publisher: Oxford University Press (UK)
ISBN: 0199797587
Size: 39.20 MB
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Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases -- how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.

Metabolism At A Glance

Author: J. G. Salway
Publisher: John Wiley & Sons
ISBN: 0470674717
Size: 38.64 MB
Format: PDF, Kindle
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Metabolism at a Glance presents a concise, illustrated summary of metabolism in health and disease. This essential text is progressively appropriate for introductory through to advanced medical and biochemistry courses. It also provides a succinct review of inborn errors of metabolism, and reference for postgraduate medical practitioners and biomedical scientists who need a resource to quickly refresh their knowledge. Fully updated and extensively illustrated, this new edition of Metabolism at a Glance is now in full colour throughout, and includes new coverage of sports biochemistry; the metabolism of lipids, carbohydrates and cholesterol; glyceroneogenesis, α-oxidation and ω-oxidation of fatty acids. It also features the overlooked “Krebs Uric Acid Cycle”. Metabolism at a Glance offers an accessible introduction to metabolism, and is ideal as a revision aid for students preparing for undergraduate and USMLE Step 1 exams.

Nutritional And Therapeutic Interventions For Diabetes And Metabolic Syndrome

Author: Debasis Bagchi
Publisher: Academic Press
ISBN: 0123850843
Size: 19.60 MB
Format: PDF, Docs
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Diabetes mellitus affects approximately 20 million people in the US, or nearly 7% of the population. It is expected to increase by 70% within the next 25 years, and numerous epidemiologic studies have demonstrated that type 2 diabetes increases the risk of cardiovascular morbidity and mortality. It is estimated to cost over $92 billion in health care costs and lost productivity. The increased risk is due to the detrimental vascular effects of prolonged exposure to a hyperglycemic, oxidant-rich environment yielding associated cardiovascular risk factors: atherosclerosis, hypertension and clotting abnormalities. Hypertension and dyslipidemia in diabetic patients produces substantial decreases in cardiovascular and microvascular diseases. Nutritional and Therapeutic Interventions for Diabetes and Metabolic Syndrome provides an overview of the current epidemic, outlines the consequences of this crisis and lays out strategies to forestall and prevent diabetes, obesity and other intricate issues of metabolic syndrome. The contributing experts from around the world give this book relevant and up-to-date global approaches to the critical consequences of metabolic syndrome and make it an important reference for those working with the treatment, evaluation or public health planning for the effects of metabolic syndrome and diabetes. Scientific discussion of the epidemiology and pathophysiology of the relationship between diabetes and metabolic syndrome Includes coverage of Pre-diabetes conditions plus both Type I and Type II Diabetes Presents both prevention and treatment options