Inherited Metabolic Diseases


Book Description

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.




Low Protein Food List for PKU


Book Description

This book has been replaced by the online service HowMuchPhe.org, and smaller, pocket books are available at howmuchphe.org/books. The Low Protein Food List for PKU has been an indispensible resource for everyone involved in the treatment of phenylketonuria (PKU) since 1995. This third edition contains over 6,000 entries, the most extensive listing yet of foods that are potentially suitable for the diet, nearly double the number found in the previous edition. It includes many new foods found at health-oriented grocery stores, expanding choices for the diet. The book provides information on phenylalanine (phe), protein, and calorie content of foods based on serving portions, both in common measures and gram weights, in an easily searchable format. The handy "mg phe/gm food" column allows users to compare phenylalanine density of foods and make appropriate food choices for individual diet needs. People using an "exchange" system for counting phe will find exchanges are calculated for each food portion as well. The front section of the book also contains valuable information and tips for managing the PKU diet.




Hospital Diets


Book Description







Dietary reference values for energy


Book Description

Dietary reference values (DRVs) for energy are based on estimating the total energy expenditure (TEE) for groups of people. TEE provides a measure of the energy requirement at energy balance i.e. when energy intake matches energy expenditure. The methodology to measure TEE - the doubly labelled water (DLW) method - has advanced and as a result, the evidence base on TEE in a wide variety of population groups has expanded considerably. With the high levels of overweight and obesity currently seen in the UK and the wealth of new data now available, it was considered timely for the Scientific Advisory Committee on Nutrition (SACN) to review recommendations for the UK population. This report details the evidence and approaches SACN have considered in order to update the DRVs for energy. SACN chose a prescriptive approach to estimating energy reference values; suitable reference body weight ranges consistent with long-term good health were used to calculate energy reference values. Thus, basal metabolic rate (BMR) values were predicted using healthy reference body weights. Using this approach, if overweight groups consume the amount of energy recommended for healthy weight groups, they are likely to lose weight, whereas underweight sections of the population should gain weight towards the healthy body weight range. SACN has derived new energy reference values. For most population groups, except for infants and young children, the values have increased. DRVs should be used to assess the energy requirements for large groups of people and populations, but should not be applied to individuals due to the large variation in physical activity and energy expenditure observed between people.




Nutrition Management of Inherited Metabolic Diseases


Book Description

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.




Low Protein Cookery for Phenylketonuria


Book Description

Much more than a cookbook, Low Protein Cookery for Phenylketonuria (PKU) is a practical and easy-to-use guide for those who must maintain a protein-restricted diet for treatment of PKU or similar inherited diseases of protein metabolism. It contains hundreds of helpful suggestions for managing the diet. This third edition of Low Protein Cookery for PKU appears exactly twenty years after the original 1977 publication and includes the 450-plus recipes and the hints from the 1988 second edition that have been used and enjoyed by families for nearly a decade. The major new feature of the third edition is entirely new nutrient calculations. The available food supply has changed significantly in the past fifteen years, and nutrient information is much better now. The nutrient calculations in this edition of the cookbook are based on the updated 1995 Low Protein Food List for PKU compiled by the author, which is the most widely used food list for the PKU diet in the United States. Some of the changes in nutrient values are subtle, others more significant; all reflect the best information currently available. Low Protein Cookery for PKU offers recipes that appeal to a wide range of ages, suit a wide range of individual diet requirements, and facilitate integration of the diet into normal family eating routines. Many of the recipes are suitable for the entire family; others include instructions for adapting the recipe to suit the needs of family members not on the diet, or are accompanied by recipes for the preparation of similar non-diet items. The recipes provide gram weights when appropriate, for greater accuracy in preparing the recipes and in maintaining the diet.




Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders


Book Description

"Packed with information that is useful on a daily basis. This book will be useful for all who care for children with disabilities or chronic disase." --Journal of Parenteral and Enteral Nutrition Food and nutrition studies are more relevant to the practice of medicine than ever before. As scientific understanding of these links has expanded over the last decade, the need for an authoritative reference has never been greater. This fully revised and updated edition of PEDIATRIC AND ADULT NUTRITION IN CHRONIC DISEASES, DEVELOPMENTAL DISABILITIES, AND HEREDITARY METABOLIC DISORDERS offers a comprehensive reference to the nutritional interventions for diseases across the lifespan. Comprising more than 60 topic-based chapters from leading figures in nutrition and medicine, this book is the most up-to-date work on diet as a symptom of, and therapy for, chronic, hereditary, and developmental disorders. Enriched with tables and charts that distill the latest recommendations for nutrient intake, physical activity, this third edition is a convenient and essential resource for busy clinicians and students in nutrition, dietetics, and medical specialties.




Nutrition Management of Patients with Inherited Metabolic Disorders


Book Description

5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.