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Nutrition Management of Patients with Inherited Metabolic Disorders

Author(s): Phyllis B. Acosta, DrPH, RD, Nutrition Consultant, Division of Medical Genetics, Emory University
Details:
  • ISBN-13: 9780763757779
  • Hardcover    476 pages      © 2010
Price: International Sales $178.95 US List
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5 Stars! Doody's Book Review

Written by the foremost nutrition experts in the United States, Nutrition Management of Patients with Inherited Metabolic Disorders supplies the knowledge needed by nutritionists, dietitians, and other healthcare professionals who provide services to patients with inherited metabolic disorders (IMDs). Many IMDs have been managed by diet, improving neurological and physical outcomes; however, nutrition problems still occur. These problems could be due to the quality of the medical foods, inadequate prescription by healthcare providers, or poor diet adherence by the patient. Nutrition Management of Patients with Inherited Metabolic Disorders examines these issues and helps medical food manufacturers, medical geneticists, nutritionists, dietitians, and other healthcare providers find alternative forms of supplying the nutrients that promote optimal health and nutrition for the patient.

Click here for a list of contributors.

Features & Benefits

Provides an introduction to genetics, a comprehensive chapter on newborn screening, screening techniques, the position of newborn screening within state public health programs, the power and limitations of the programs, and ethical considerations involved in universal screening programs. 

Describes genetics of each IMD, methods of diagnosis, outcomes if untreated, reasons for and recommended amounts of each nutrient, how to plan and effectively manage nutrition of the patients, how to monitor nutrition status, problems occurring in managing nutrition, resources for management and outcomes of nutrition management.  

Applicable Courses

This book is ideal for professionals working with patients with IMDs and it provides the basis for graduate level courses in dietetics, nutrition, genetics, nursing, genetics counseling, and public health. 

 

It is a valuable resource for medical students in their biochemistry courses and for postdoctoral fellows completing fellowships in genetics. 

Chapter  Preface  Preface
Chapter  1  INTRODUCTION TO GENETICS AND GENETICS OF INHERITED METABOLIC DISORDERS
Chapter  2  NEWBORN SCREENING BY MASS SPECTROMETRY
Chapter  3  EVALUATION OF NUTRITION STATUS
Chapter  4  RATIONALES FOR AND PRACTICAL ASPECTS OF NUTRITION MANAGEMENT
Chapter  5  NUTRITION MANAGEMENT OF PATIENTS WITH INHERITED DISORDERS OF AROMATIC AMINO ACID METABOLISM
Chapter  6  NUTRITION MANAGEMENT OF PATIENTS WITH INHERITED DISORDERS OF BRANCHED CHAIN AMINO ACID METABOLISM
Chapter  7  NUTRITION MANAGEMENT OF PATIENTS WITH INHERITED DISORDERS OF SULFUR AMINO ACID METABOLISM
Chapter  8  NUTRITION MANAGEMENT OF PATIENTS WITH INHERITED DISORDERS OF ORGANIC ACID METABOLISM
Chapter  9  NUTRITION MANAGEMENT OF PATIENTS WITH INHERITED DISORDERS OF GALACTOSE METABOLISM
Chapter  10  NUTRITION MANAGEMENT OF DISORDERS OF PATIENTS WITH DISORDERS OF MITOCHONDRIAL FATTY ACID OXIDATION
Chapter  11  NUTRITION MANAGEMENT OF DISORDERS OF PATIENTS WITH INHERITED DISORDERS OF UREA CYCLE ENZYMES
Chapter  Appendices  Appendices

Phyllis B. Acosta, DrPH, RD-Nutrition Consultant, Division of Medical Genetics, Emory University

Dr. Acosta has more than fifty years of experience in the field of inherited metabolic disorders (IMDs).  In   addition to providing direct nutrition management to more than 200 patients with an IMD, she was nutrition consultant to the sixteen year national phenylketonuria (PKU) collaborative study on outcomes of  treated patients with PKU and advisor to the NICHD committee on the fourteen year international study on reproductive outcomes of treated women with PKU.  While employed as Director of Inherited Metabolic Diseases at Ross Products Division, Abbott Laboratories she designed eighteen products for IMDs and designed and conducted the research to test their efficacy.  Dr. Acosta is nationally and internationally known for her work in the field of nutrition management of patients with an IMD and has published more than than 150 journal articles, DHEW booklets and book chapters.  She has been an invited speaker at seminars and conferences (>150 in the US)(> 50 internationally).  She was Professor at six Universities and is mother of three children and grandmother of four children.

  • The only one of its kind, this book is a needed reference since these disorders are quite rare and there are few healthcare professionals who have the knowledge base to treat them. The author is an authority in this field and she has chosen contributors who are equally well versed.

    Given that this is the first book on inherited metabolic disorders, it is a welcome addition to any healthcare professional’s reference library, especially those who work with infants in the inpatient setting.

     - Amy Hess-Fischl, MS, RD, LDN, BC-ADM, CDE, University of Chicago Medical Center (for Doody’s Book Review, October 2009. 100 – 5 stars!)