Nutrition Management of Inherited Metabolic Diseases : Lessons From Metabolic University

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. 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 -- Nutrition Management 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. Laurie E. Bernstein, Fran Rohr, Joanna R. Helm, Editors. Includes Bibliographical References And Index. Mode Of Access: World Wide Web. Front Matter....Pages i-xiv Front Matter....Pages 1-1 Introduction to Genetics....Pages 3-14 Expanded Newborn Screening for Inherited Metabolic Diseases....Pages 15-23 Nutrition Education....Pages 25-33 Pathophysiology of Inherited Metabolic Disease....Pages 35-45 Metabolic Intoxication Syndrome in a Newborn....Pages 47-57 Anabolism: Practical Strategies....Pages 59-62 Protein Requirements in Inherited Metabolic Diseases....Pages 63-73 Laboratory Evaluations in Inherited Metabolic Diseases....Pages 75-85 Front Matter....Pages 87-87 Phenylketonuria: Phenylalanine Neurotoxicity....Pages 89-99 Phenylketonuria: The Diet Basics....Pages 101-116 Understanding Large Neutral Amino Acids and the Blood-Brain Barrier....Pages 117-125 Tetrahydrobiopterin Therapy for Phenylketonuria....Pages 127-138 Maternal Phenylketonuria....Pages 139-147 Homocystinuria: Diagnosis and Management....Pages 149-158 Nutrition Management of Urea Cycle Disorders....Pages 159-171 Nutrition Management of Maple Syrup Urine Disease....Pages 173-183 Front Matter....Pages 185-185 Organic Acidemias....Pages 187-201 Glutaric Acidemia Type I: Diagnosis and Management....Pages 203-209 Nutrition Management of Glutaric Acidemia Type 1....Pages 211-220 Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia....Pages 221-228 Front Matter....Pages 185-185 Nutrition Management During Pregnancy: Maple Syrup Urine Disease, Propionic Acidemia, Methylmalonic Acidemia, and Urea Cycle Disorders....Pages 229-237 Front Matter....Pages 239-239 Fatty Acid Oxidation Defects....Pages 241-254 Nutrition Studies in Long-Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring....Pages 255-270 Nutrition Management of Fatty Acid Oxidation Disorders....Pages 271-282 Front Matter....Pages 283-283 The Diet for Galactosemia....Pages 285-293 Glycogen Storage Diseases....Pages 295-305 Nutrition Management of Glycogen Storage Disease Type 1....Pages 307-317 Back Matter....Pages 319-377