Fast Facts Long Chain Fatty Acid Oxidation Disorders For Patients
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| Author | : B.K. Burton |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 26 |
| Release | : 2021-05-21 |
| Genre | : Medical |
| ISBN | : 3318069574 |
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?
| Author | : B.K. Burton |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 50 |
| Release | : 2021-04-08 |
| Genre | : Medical |
| ISBN | : 3318068314 |
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
| Author | : Barbara K. Burton |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 50 |
| Release | : 2021-04-14 |
| Genre | : Medical |
| ISBN | : 3318068306 |
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
| Author | : Laurie E. Bernstein |
| Publisher | : Springer |
| Total Pages | : 363 |
| Release | : 2015-06-03 |
| Genre | : Medical |
| ISBN | : 3319146211 |
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.
| Author | : Nenad Blau |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 404 |
| Release | : 2006-01-16 |
| Genre | : Medical |
| ISBN | : 3540289623 |
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.
| Author | : Graham C. Burdge |
| Publisher | : Elsevier |
| Total Pages | : 256 |
| Release | : 2018-05-04 |
| Genre | : Science |
| ISBN | : 012811231X |
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
| Author | : Carla E. M. Hollak |
| Publisher | : Oxford University Press |
| Total Pages | : 657 |
| Release | : 2016 |
| Genre | : Medical |
| ISBN | : 0199972133 |
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.
| Author | : B.K. Burton |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 26 |
| Release | : 2021-07-19 |
| Genre | : Medical |
| ISBN | : 3318069663 |
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?
| Author | : Bruno Bissonnette |
| Publisher | : McGraw-Hill Education / Medical |
| Total Pages | : 988 |
| Release | : 2006-08-10 |
| Genre | : Medical |
| ISBN | : |
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.
| Author | : B.K. Burton |
| Publisher | : Karger Medical and Scientific Publishers |
| Total Pages | : 50 |
| Release | : 2021-07-19 |
| Genre | : Medical |
| ISBN | : 3318069698 |
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
