
Nutrition Management of Inherited Metabolic Diseases
Beschreibung
This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors.
This book was created in 2014 for the metabolic community. The 1 st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition.
Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met
The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and 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 also addressed. In addition, current medical management therapies is included.
Weitere Details
Weitere Ausgaben
Personen
Fran Rohr, MS, RD, LDN , is a partner with Met Ed Co, a non-profit organization dedicated to education of metabolic dietitians. Formerly, she was a clinical nutritionist at Boston Children's Hospital, where she worked with patients with inherited metabolic disorders for 38 years. Fran is a Founder and a Past President of Genetic Metabolic Dietitians International (GMDI). She is Co-principal Investigator of the GMDI/Southeast Regional Newborn Screening Network (SERN) Nutrition Guideline Development Project. She has been involved in several research studies on phenylketonuria (PKU) and maternal PKU
Sandy van Calcar: Sandy is an Associate Professor in the Department of Molecular and Medical Genetics and the Graduate Programs in Human Nutrition at Oregon Health & Science University in Portland, Oregon. Sandy has worked in the field of metabolic nutrition for over 30 years and has both clinical and research experience. She is a founding member and Past-President of Genetic Metabolic Dietitians International (GMDI).
Inhalt
Background: Introduction to Genetics.- Expanded Newborn Screening for Inherited Metabolic Diseases.- Nutrition Education.- Pathophysiology of Inherited Metabolic Disease.- Metabolic Intoxication Syndrome in a Newborn.- Anabolism: Practical Strategies.- Protein Requirements in Inherited Metabolic Diseases.- Laboratory Evaluations in Inherited Metabolic Diseases. Aminoacidopathies : Phenyketonuria: Phenylalanine Neurotoxicity.- Phenylketonuria: The Diet Basics.- Understanding Large Neutral Amino Acids and the Blood Brain Barrier.- Tetrahydrobiopterin Therapy in Phenylketonuria.- Maternal Phenylketonuria.- Homocystinuria: Diagnosis and Management.- Nutrition Management of Urea Cycle Disorders.- Nutrition Management of Maple Syrup Urine Disease. Organic Acidemias : Organic Acidemias.- Glutaric Acidemia Type 1: Diagnosis and Management.- Nutrition Management of Glutaric Acidemia Type 1.- Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia.- NutritionManagement during Pregnancy: Maple Syrup Urine Disease, Propionic Acidemia and Urea Cycle Disorders. Fatty Acid Oxidation Disorders : Fatty Acid Oxidation Disorders.- Nutrition Studies in Long Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring.- Nutrition Management of Fatty Acid Oxidation Disorders. Disorders of Carbohydrate Metabolism : Nutrition Management of Galactosemia.- Glycogen Storage Disease.- Nutrition Management of Glycogen Storage Disease Type 1.
Systemvoraussetzungen
Dateiformat: PDF
Kopierschutz: Wasserzeichen-DRM (Digital Rights Management)
Systemvoraussetzungen:
- Computer (Windows; MacOS X; Linux): Verwenden Sie zum Lesen die kostenlose Software Adobe Reader, Adobe Digital Editions oder einen anderen PDF-Viewer Ihrer Wahl (siehe E-Book Hilfe).
- Tablet/Smartphone (Android; iOS): Installieren Sie bereits vor dem Download die kostenlose App Adobe Digital Editions oder die App PocketBook (siehe E-Book Hilfe).
- E-Book-Reader: Bookeen, Kobo, Pocketbook, Sony, Tolino u.v.a.m.
Das Dateiformat PDF zeigt auf jeder Hardware eine Buchseite stets identisch an. Daher ist eine PDF auch für ein komplexes Layout geeignet, wie es bei Lehr- und Fachbüchern verwendet wird (Bilder, Tabellen, Spalten, Fußnoten). Bei kleinen Displays von E-Readern oder Smartphones sind PDF leider eher nervig, weil zu viel Scrollen notwendig ist. Mit Wasserzeichen-DRM wird hier ein „weicher” Kopierschutz verwendet. Daher ist technisch zwar alles möglich – sogar eine unzulässige Weitergabe. Aber an sichtbaren und unsichtbaren Stellen wird der Käufer des E-Books als Wasserzeichen hinterlegt, sodass im Falle eines Missbrauchs die Spur zurückverfolgt werden kann.
Weitere Informationen finden Sie in unserer E-Book Hilfe.