Product Description
This is the story of theunraveling of a profound medical mystery. It started 70 years ago in Norway,where Mrs Egeland wassearching for a physician who could treat her two young children. At birth,both children appeared to be healthy, but they soon developed signs of severemental retardation. Her search ended when she found Dr. Flling,who determined that the retardation was caused by a new genetic disease, laternamed phenylketonuria (PKU), thatblocks the oxidation of the amino acid phenylalanine. Later, others devised aninexpensive test for PKU and an effective¿ treatment- the low phenylalanine diet.Although these developments came too late to help Mrs. Egeland'schildren, they have helped thousands of other PKU children live normal lives.This is one of the great success stories of modern medicine.There is one painful legacy fromPKU that occurs when a woman who is unaware that she has PKU becomes pregnant.Infants born to such women, estimated to be about 6.5 million, will likely bedamaged in utero,a condition called Maternal PKU. To prevent this damage, these women must betested for PKU and, if positive, go on a low phenylalanine diet before they become pregnant. ... Read more

Customer Reviews (1)

0vercoming A Bad Gene: Discovery & Treatment of PKU
PKU is another inherited disorder which I have really found interesting to read about!In fact I purchased several books in the subject of PKU!At least with PKU, even if it isn't cured,it is treatable provided the steps are taken right away to prevent the severe mental retardation which a PKU child sustains if not put on the special PKU dietary program! It was discovered in 1934 by Dr. Asbjorn Folling who had seen 2 siblings with SEVERE mental retardation in 0slo, Norway!I find it really interesting as to how Dr. Folling made every effort to find out what he could in regards to the youngsters' difficulties!0f course in much later times, other physicians contributed as well!Dawn E. Lowenstein ... Read more

Product Description
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing.This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

Product Description
This book provides critical, comprehensive overview of monogenic defects causing neurological abnormalities on lysosomal storage diseases, Phenylketonuria and Canavan disease and was compiled to understand how a single gene defect impedes normal metabolic activity to result in pathophysiological abnormalities. In addition, therapeutical approaches in treating monogenic traits have also been presented. The articles assembled in this book will bring the reader thoughtful appraisals of past accomplishments, fresh concepts on monogenic traits and an exciting glimpse of future developments in the field of metabolic disorder. It is hoped that the text will primarily interest advanced biomedical scientists, neuroscientists and pathologists interested in Lysosomal storage diseases, Phenylketonuria and Canavan disease. ... Read more

Customer Reviews (1)

Phenylketonuria by Frank Lyman
I have enjoyed reading this subject of Phenylketonuria very much!This book has brought home the discovery of this inherited disorder and how strides had been made in treating children with PKU! ... Read more

Product Description
This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to phenylketonuria (also Classical Phenylketonuria; Folling Syndrome; Hyperphenylalanemia; Hyperphenylalaninemia; Phenylalanine Hydroxylase Deficiency; Phenylalaninemia), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on phenylketonuria. Given parents' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

Product Description
Webster's bibliographic and event-based timelines are comprehensive in scope, covering virtually all topics, geographic locations and people. They do so from a linguistic point of view, and in the case of this book, the focus is on "Phenylketonuria," including when used in literature (e.g. all authors that might have Phenylketonuria in their name). As such, this book represents the largest compilation of timeline events associated with Phenylketonuria when it is used in proper noun form. Webster's timelines cover bibliographic citations, patented inventions, as well as non-conventional and alternative meanings which capture ambiguities in usage. These furthermore cover all parts of speech (possessive, institutional usage, geographic usage) and contexts, including pop culture, the arts, social sciences (linguistics, history, geography, economics, sociology, political science), business, computer science, literature, law, medicine, psychology, mathematics, chemistry, physics, biology and other physical sciences. This "data dump" results in a comprehensive set of entries for a bibliographic and/or event-based timeline on the proper name Phenylketonuria, since editorial decisions to include or exclude events is purely a linguistic process. The resulting entries are used under license or with permission, used under "fair use" conditions, used in agreement with the original authors, or are in the public domain. ... Read more

Product 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 PKUcompiled 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.A useful and extensive set of ideas for use by professionals, which may be adapted for their own patients, to provide more variety in a specialized diet.Journal of Inherited Metabolic DiseaseThe author is well aware of the difficulties and time necessary for preparation of a special diet. Most of the recipes are simple and easy to prepare. . . . The chapter on Everyday Tips is enormously helpful in storing and freezing, planning meals, and generally assisting the cook to manage a special diet.Academic Library Book Review

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Customer Reviews (7)

Fantastic asset for families with PKU
My husband grew up PKU and had been on his diet the majority of his life when we met. When we got married I'd never dealt with cooking for a vegetarian, let alone low protein diet. So, I started hunting for resources. This cookbook has been an asset in our kitchen ever since. Highly recommended to those with PKU families, even more so for children! A lot of these recipes are family tested and even, in my case, non PKU diet approved. I can still make sure I get my daily essentials, but cook delicious meals for my husband as well. I've even been able to derive my own recipes from the things I've learned. Fantastic book. I highly recommend it!

a Bible for metabolic amino acid/protein disorders
My daughter is 27 now and we've been using an old version of this cookbook for something like the last 20 years.I never bought the special ingredients that some recipes need, but just reading the book from cover to cover gave me enough ideas on how to adapt regular recipes for her special restricted protein diet.There are other, newer cookbooks by Ginny Schuett, and also lots of on-line sites with recipes, but this is the original.Some sites also provide lists of other amino acids in these recipes, besides PHE.

very helpful
I bought this because my future sister-in-law has PKU.Her mother recommended it, and the book does a good job of explaning questions I wouldn't even think to ask.It is full of information, recipes, and other resources.Some of the contact information for the specialty food distributors is out of date, but easily updated by doing an internet search of the companies and penciling in the new information.I'm not the best qualified reviewer for this book, but as far as I am concerned, it is an excellent resource.

Bravo!!!
These women are saints!! There is not enough room on this forum to describe how amazingly awesome this book is. My 1 year old Niece has PKU, and luckily enough my nephew-in-law absolutely LOVES to cook. I got this for him (along with the PKU bread maker recipes) as a Christmas gift and he flipped! He said everything in the book looks fantastic, and there is literally everything from apples to zucchini. If you're needing a low protein diet book, or even just wanting to eat healthier, this is by far the best one out there. Thanks again to Virginia Schuett and Dorothy Corry for taking the time to make low-protein foods not so boring! Generations of PKU/Kidney patients and their families will be thanking you for years to come! I know this grateful Great-Aunt does.

Really Yummy Recipies!!
The food in here is really good stuff! I especially love all the cookie recipies, I haven't made one I don't like! All the special food is expensive, but it's worth it. I really don't know how people managed a PKU diet before the book came out. If you can find the second edition, though, it's almost exactly the same page for page, and I like the spiral binding better, so the book lays flat when you're cooking. ... Read more

Product Description
This up-to-date electronic book on CD-ROM provides the best collection available anywhere of official Federal government information and documents on the subject of phenylketonuria (PKU). This CD-ROM uses next-generation search technology that allows complete indexing and makes all files on the disc fully searchable. For patients, practical information is provided in clearly written patient education documents. For medical professionals, doctor reference tools and texts have detailed technical information and clinical background material.

This thoroughly researched collection presents vital information from many authoritative sources, including the National Institutes of Health (NIH), Centers for Disease Control (CDC), Food and Drug Administration (FDA), the Combined Health Information Database (CHID), and the National Institute of Child Health and Human Development (NICHD). Contents include clinical and medical information, with information on signs, symptoms, testing, diagnosis, treatment, and more.

In addition, as a bonus we have included an encyclopedic collection of general medical and health documents – thousands of pages with extensive material from the NIH on hundreds of diseases and health topics from A to Z, along with government consumer healthcare tips, disease prevention programs, dietary guidelines, and travelers’ health information. Since navigating the Internet to find additional non-governmental medical information can be confusing, we've also provided our exclusive "Guide to Leading Medical Websites" with updated links to 73 of the best sites for medical information! By using weblinks on the CD-ROM, you can quickly check for the latest clinical updates directly from the government.

This CD-ROM has over 31,000 pages reproduced using Adobe Acrobat PDF software and Reader software is included. Advanced search and indexing features are built into our reproduction, providing a complete full-text index. This enables the user to search all the files on the disk at one time for words or phrases using just one search command! The Acrobat cataloging technology adds enormous value and uncommon functionality to this impressive collection of government documents and material. There is no other reference that is as fast, convenient, comprehensive, and portable!

Our CD-ROMs are privately-compiled collections of official public domain U.S. government files and documents - they are not produced by the federal government. They are designed to provide a convenient user-friendly reference work, utilizing the benefits of the Acrobat format to uniformly present thousands of pages that can be rapidly reviewed or printed without untold hours of tedious searching and downloading. This book-on-a-disc makes a superb reference work and educational tool for patients and their families, physicians, and other medical professionals. (Information on this CD-ROM is NOT a substitute for professional medical advice; of course, readers are urged to consult with a professional health care provider for any suspected illness.) ... Read more

Customer Reviews (2)

Complete waste of money - Progressive Management (PM) swindle
This poor CD-R about phenykketonuria is totally useless.
Progressive Management (PM) is a publisher specialized in the production of mediocre CD-ROM and Kindle Books created using freely available informations and documents from various government websites. Stay away from all the PM productions!

POWERFULHUB OF INFORMATION SOURCES ON PKU!
THIS PRODUCT WAS REVIEWED BY THE WRITERCAROLE ANNE MURPHY. THE AUTHOR DID A FULL INVESTIGATION OF ITS CONTENT AND NEED IN THE PKU COMMUNITY AND HER IS THE RESULT: THIS ITEM IS A SUPER SOURCE OF INFORMATION ON WEB SITES THAT COVER PENYLKETORUNIA AND RELATED SUBJECTS. IT IS SIMPLE TO USE AND HOUSES THOUSANDS OF PAGES UNDER ONE ROOF. THIS ITEM SHOULD BE AT EVER MEDICAL OFFICE AS A TRUE REFERENCE AND SHOULD BE ENDOSED BY PRIVATE PKU SITES AROUND THE WORLD. CAROLE ANNE MURPHY IS VERY PLEASED AND THIS REVIEW POSTED ON PKUCANADA & LULU WEB SITES. ... Read more

Product Description
High Quality Content by WIKIPEDIA articles! High Quality Content by WIKIPEDIA articles!Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase. This enzyme is necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.Since its discovery, there have been many advances in its treatment. It can now be managed by the patient with little or no side-effects, just the inconvenience of managing the treatment. If, however, the condition is left untreated, it can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures. In the past, PKU was treated with a low-phenylalanine diet. ... Read more

Product Description
This digital document is an article from Medical Update, published by Benjamin Franklin Literary & Medical Society, Inc. on April 1, 1998. The length of the article is 333 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Alzheimer's-like symptoms reversible in PKU patients. (phenylketonuria)
Publication: Medical Update (Newsletter)
Date: April 1, 1998
Publisher: Benjamin Franklin Literary & Medical Society, Inc.
Volume: v21Issue: n10Page: p5(1)

Distributed by Thomson Gale ... Read more

Product Description
The book has no illustrations or index. It may have numerous typos or missing text. However, purchasers can download a free scanned copy of the original rare book from the publisher's website (GeneralBooksClub.com). You can also preview excerpts of the book there. Purchasers are also entitled to a free trial membership in the General Books Club where they can select from more than a million books without charge. Original Publisher: Washington : For sale by the Superintendent of Documents, U. S. Govt. Print. Off.]; Publication date: 1964; Subjects: Phenylketonuria; ... Read more

Product Description
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with phenylketonuria is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

Product Description
This digital document is an article from Gale Encyclopedia of Medicine, 3rd ed., brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 2842 words.The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase.You can view it with any web browser.The third edition of this authoritative, comprehensive, in-depth medical guide features information on medical topics in language accessible to adult laypersons. Disease/disorder articles typically cover definition; description; causes and symptoms; diagnosis; treatments; prevention; and more. Test/treatment articles typically cover definition; purposes; precautions; preparation; risks; normal and abnormal results; and much more. ... Read more

Product Description

Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

Product Description
The article is excerpted fromGale Encyclopedia of Medicine.

Consultthe second edition of this authoritative, comprehensive, in-depthmedical guide for information on more than 1,700 medical topics inlanguage accessible to adult laypersons. Presented in a singlealphabetical sequence, articles range in length from one or twoparagraphs for minor topics, to several pages or more for major topics.Disease/disorder articles typically cover definition; description;causes and symptoms; diagnosis; treatments; prevention; and more.Test/treatment articles typically cover definition; purposes;precautions; preparation; risks; normal and abnormal results; and muchmore. This second edition includes more than 200 new entries, 300updated entries, approximately 650 color images and illustrations, anda comprehensive subject index. New features include biographical andhistorical sidebars throughout the text.

Disease/disorder articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the disorder
• Descriptions -- overview of the disorder; who gets it and why
• Causes & symptoms -- process, substance or organism thatproduces the condition; any risk factors that increase susceptibilityto the condition; signs and symptoms of the disease
• Diagnosis -- overview of procedures and tests used todiagnose the condition; how the test is done; who should be tested andwhen; time required; cost; whether it's typically covered by insurance
• Treatments -- overview of conventional methods of care ormanagement of the condition, such as drugs, surgeries, physicaltherapy, etc.
• Alternative treatments -- overview of alternative/complementary therapies that may be used to treat the condition
• Prognosis -- probable outcome of the disease
• Preventions -- what actions can be taken to prevent the condition from occurring

Test/treatment articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the test/treatment
• Purposes -- why and when this test/treatment is prescribed
• Precautions -- when this test/treatment should not be prescribed
• Descriptions -- overview of the test/treatment including cost,length of time required, procedures followed, whether typically coveredby insurance
• Preparation -- pre-test treatment procedures, if any
• Aftercare -- post-test treatment procedures, if any
• Risks -- any complications/side effects commonly associated with the test/treatment
• Normal results -- for tests, describes the normal values; for treatments, describes the anticipated outcomes
• Abnormal results -- defines abnormal test values

Published/Released: December 2001