LEADER 05278nam 22006855 450 001 9910578698303321 005 20251202135355.0 010 $a3-030-94510-3 024 7 $a10.1007/978-3-030-94510-7 035 $a(MiAaPQ)EBC7017516 035 $a(Au-PeEL)EBL7017516 035 $a(CKB)23842950900041 035 $aEBL7017516 035 $a(AU-PeEL)EBL7017516 035 $a(DE-He213)978-3-030-94510-7 035 $a(PPN)269150293 035 $a(EXLCZ)9923842950900041 100 $a20220614d2022 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aNutrition Management of Inherited Metabolic Diseases $eLessons from Metabolic University /$fedited by Laurie E. Bernstein, Fran Rohr, Sandy van Calcar 205 $a2nd ed. 2022. 210 1$aCham :$cSpringer International Publishing :$cImprint: Springer,$d2022. 215 $a1 online resource (415 pages) 300 $aDescription based upon print version of record. 311 08$aPrint version: Bernstein, Laurie E. Nutrition Management of Inherited Metabolic Diseases Cham : Springer International Publishing AG,c2022 9783030945091 320 $aIncludes bibliographical references and index. 327 $aBackground: 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. 330 $aThis 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 1st 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. 606 $aMetabolism$xDisorders 606 $aFood science 606 $aNursing 606 $aNutrition 606 $aMetabolic Disease 606 $aFood Science 606 $aNursing 606 $aNutrition 615 0$aMetabolism$xDisorders. 615 0$aFood science. 615 0$aNursing. 615 0$aNutrition. 615 14$aMetabolic Disease. 615 24$aFood Science. 615 24$aNursing. 615 24$aNutrition. 676 $a616.39042 676 $a616.39042 702 $aBernstein$b Laurie E. 702 $aRohr$b Fran 702 $aHelm$b Joanna R. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910578698303321 996 $aNutrition Management of Inherited Metabolic Diseases$92881834 997 $aUNINA