Download or read book Fast Facts Long Chain Fatty Acid Oxidation Disorders for Patients written by B.K. Burton and published by Karger Medical and Scientific Publishers. This book was released on 2021-05-21 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, inherited conditions. With an LC-FAOD, the body has trouble breaking down fat for energy, which can lead to symptoms such as low blood sugars, muscle pain/weakness, and heart problems. LC-FAODs are diagnosed by newborn screening or symptoms later in life. Management includes a specialized nutrition plan, and prevention of fasting, especially during illness. A person with an LC-FAOD can live a full, active and healthy life with lifestyle changes and close coordination with, and support from, an expert healthcare team. Table of Contents: • Fats and fatty acids • Fatty acids for energy • Long-chain fatty acid oxidation disorders • Diagnosis • Genetic testing • Living with an LC-FAOD • Monitoring • What can I do to help my child? • Genetic counseling • How many people are affected? • Who’s who?

Download or read book Fast Facts Long Chain Fatty Acid Oxidation Disorders written by Barbara K. Burton and published by Karger Medical and Scientific Publishers. This book was released on 2021-04-14 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene and protein affected, but there are some common clinical and biochemical features. Newborn screening, which allows early intervention to prevent long-term morbidity, is not universally available. Even with screening, it is important that health professionals recognize the symptoms that may manifest at different stages of life. This concise guide to these rare conditions will be of value to all health professionals who may encounter or care for an individual with a long-chain fatty acid oxidation disorder. As well as explaining the underlying defects, inheritance and how the conditions manifest, the book describes the diagnosis and differential diagnosis of the disorders. The final chapter gives some guidance on genetic counseling and supporting patients. Table of Contents: • Fatty acid metabolism • Epidemiology and genetics • Clinical presentation • Diagnosis • Genetic counseling, newborn screening and patient support

Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Physician s Guide to the Treatment and Follow Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Fast Facts pour les patients Les troubles d oxydation des acides gras cha ne longue written by B.K. Burton and published by Karger Medical and Scientific Publishers. This book was released on 2021-07-19 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les troubles d’oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énergie, ce qui peut mener à des symptômes tels qu’un taux de sucre sanguin trop bas, des douleurs ou des faiblesses musculaires, et des problèmes cardiaques. Les TOAG-CL sont diagnostiqués à l’aide de tests de dépistage chez les nouveau-nés, ou plus tard, suite à des symptômes. On les traite avec un régime spécialisé et en évitant le jeûne, surtout quand la personne atteinte est malade. Une personne avec un TOAG-CL peut mener une vie bien remplie, saine et active en apportant des changements à son style de vie, en étroite coordination et avec le soutien de son équipe de soins de santé. Table des matières: • Les lipides et les acides gras • Les acides gras comme source d’énergie • Les troubles d’oxydation des acides gras à chaîne longue • Diagnostic • Tests génétiques • Vivre avec un TOAG-CL • Surveillance et suivis • Que puis-je faire pour aider mon enfant • Consultation génétique • Combien de personnes en sont atteintes?

Download or read book Polyunsaturated Fatty Acid Metabolism written by Graham C. Burdge and published by Elsevier. This book was released on 2018-05-04 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Polyunsaturated Fatty Acid Metabolism explores a number of major roles of PUFA in the body, including its role as a component of cell membranes and how it provides substrates for the synthesis of lipid second messengers. Recent studies are unraveling the effect of interactions between diet and endocrine factors and genetic and epigenetic variation on the regulation of PUFA biosynthesis in animals. Together, these recent findings provide novel insights into the impact of differences in PUFA supply on health. This book captures these findings in a manner that marks the state-of-the-art, placing them in the wider context of PUFA metabolism and nutritional science. Users will find a comprehensive discussion on the topic that presents the contributions of leading researchers who combine their knowledge to create a cohesive academic resource for researchers, those involved in production, and health policymakers. - Provides a comprehensive view of polyunsaturated fatty acid metabolism - Describes underlying metabolism on lipids that include polyunsaturated fatty acids - Includes discussions on recent findings on the genetic and epigenetic regulation of polyunsaturated fatty acid metabolism

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Download or read book Syndromes Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Download or read book Fast Facts Les troubles d oxydation des acides gras cha ne longue written by B.K. Burton and published by Karger Medical and Scientific Publishers. This book was released on 2021-07-19 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: Les troubles d’oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énergie, ce qui peut mener à des symptômes tels qu’un taux de sucre sanguin trop bas, des douleurs ou des faiblesses musculaires, et des problèmes cardiaques. Les TOAG-CL sont diagnostiqués à l’aide de tests de dépistage chez les nouveau-nés, ou plus tard, suite à des symptômes. On les traite avec un régime spécialisé et en évitant le jeûne, surtout quand la personne atteinte est malade. Une personne avec un TOAG-CL peut mener une vie bien remplie, saine et active en apportant des changements à son style de vie, en étroite coordination et avec le soutien de son équipe de soins de santé. Table des matières: • Métabolisme des acides gras • Épidémiologie et génétique • Présentation clinique • Diagnostic • Consultation génétique, dépistage néonatal et soutien aux patients

Download or read book Free Fatty Acid Receptors written by Graeme Milligan and published by Springer. This book was released on 2017-02-08 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book highlights the important role free fatty acids (FFA) play as potential drug targets. While FFA have long been considered byproducts of cell metabolism, they are now recognized as ligands that regulate cell and tissue function via G-protein-coupled receptors. At least three receptors have been identified for which FFA appear to be the endogenous ligands.

Download or read book Food Components to Enhance Performance written by Institute of Medicine and published by National Academies Press. This book was released on 1994-02-01 with total page 560 pages. Available in PDF, EPUB and Kindle. Book excerpt: The physiological or psychological stresses that employees bring to their workplace affect not only their own performance but that of their co-workers and others. These stresses are often compounded by those of the job itself. Medical personnel, firefighters, police, and military personnel in combat settingsâ€"among othersâ€"experience highly unpredictable timing and types of stressors. This book reviews and comments on the performance-enhancing potential of specific food components. It reflects the views of military and non-military scientists from such fields as neuroscience, nutrition, physiology, various medical specialties, and performance psychology on the most up-to-date research available on physical and mental performance enhancement in stressful conditions. Although placed within the context of military tasks, the volume will have wide-reaching implications for individuals in any job setting.

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Download or read book Omega Fatty Acids in Brain and Neurological Health written by Ronald Ross Watson and published by Academic Press. This book was released on 2019-06-12 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research has clearly established a link between omega fatty acids and general health, particularly cardiovascular health. Omega Fatty Acids in Brain and Neurological Health, Second Edition, illustrates the importance of omega-3 fatty acids in longevity, cognitive impairment and structure and function of the brain's neurons and also the adverse effects of omega-6 fatty acids on neurological function. This book encompasses some of the most recent research on the links between omega fatty acids and the developing brain, aging, dementia, Alzheimer's disease and multiple sclerosis, including the role of omega-3 fatty acid supplements on hippocampal neurogenesis, substantia nigra modulation, migraine headaches, the developing brain in animals, sleep and neurodegenerative diseases. This completely updated second edition focuses on the counterbalancing dietary and tissue omega-6 fatty acids as well as it studies the effects in pregnancy and early infancy, animal model studies and autoimmune neurological diseases. - Provides a comprehensive introduction to omega-3 and omega-6 fatty acids in neurological health and directions for future research - Features novel focus on the adverse effects of omega-6 fatty acids on neurological function and the counterbalancing of dietary and tissue omega-6 - Illustrates the importance of omega-3 fatty acids in longevity and cognitive impairment - Features new chapters on early effects in pregnancy and early infancy, animal model studies and autoimmune neurological diseases - Discusses links between omega fatty acids and the developing brain, aging, dementia, Alzheimer's disease and multiple sclerosis, including the role of omega-3 fatty acid supplements

Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Diet and Health written by National Research Council and published by National Academies Press. This book was released on 1989-01-01 with total page 765 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diet and Health examines the many complex issues concerning diet and its role in increasing or decreasing the risk of chronic disease. It proposes dietary recommendations for reducing the risk of the major diseases and causes of death today: atherosclerotic cardiovascular diseases (including heart attack and stroke), cancer, high blood pressure, obesity, osteoporosis, diabetes mellitus, liver disease, and dental caries.

Download or read book Fast Facts para pacientes Dist rbios da oxida o dos cidos graxos de cadeia longa written by B.K. Burton and published by Karger Medical and Scientific Publishers. This book was released on 2021-07-19 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Defeitos de oxidação dos ácidos graxos de cadeia longa (LC-FAOD) são problemas raros e hereditários. Nos LC-FAOD, o corpo tem dificuldade para transformar a gordura em energia, o que pode resultar em sintomas como glicemia baixa, dor/fraqueza muscular e problemas cardíacos. Os LC-FAOD são diagnosticados por triagem neonatal ou em caso de sintomas que aparecem mais tarde na vida. O controle inclui um plano nutricional específico e a prevenção do jejum, especialmente durante as crises. Uma pessoa com LC-FAOD pode viver uma vida plena, ativa e saudável com mudanças no estilo de vida e coordenação afinada e apoio de uma equipe de saúde formada por especialistas. Índice: • Lipídios e ácidos graxos • Ácidos graxos para energia • Defeitos de oxidação de ácidos graxos de cadeia longa • Diagnóstico • Testes genéticos • Vivendo com LC-FAOD • Monitoramento • O que posso fazer para ajudar meu filho ou minha filha? Aconselhamento genético • Quantas pessoas são afetadas?

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.