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         Phenylketonuria:     more books (92)
  1. OVERCOMING A BAD GENE: The story of the discovery and successful treatment of Phenylketonuria, a genetic disease that causes mental retardation by Seymour Kaufman, 2004-12-08
  2. Phenylketonuria - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-02-13
  3. Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01
  4. Phenylketonuria by frank lyman, 1963-01-01
  5. The Official Parent's Sourcebook on Phenylketonuria by James N. Parker, Icon Health Publications, 2002-07
  6. Phenylketonuria: Webster's Timeline History, 1934 - 2007 by Icon Group International, 2009-06-06
  7. Phenylketonuria and some other inborn errors of amino acid metabolism: biochemistry, genetics, diagnosis, therapy
  8. Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria
  9. Low Protein Cookery for Phenylketonuria by Virginia E. Schuett, 1997-08-15
  10. 21st Century Complete Medical Guide to Phenylketonuria (PKU), Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-06
  11. Phenylketonuria
  12. Phenylketonuria Detection in Newborn Infant As a Routine Hospital Procedure by Robert Guthrie, Stewart Whitney, 1965
  13. Alzheimer's-like symptoms reversible in PKU patients. (phenylketonuria): An article from: Medical Update
  14. Phenylketonuria; A Selected Bibliography by United States. Children's Bureau, 2010-03-26

1. PHENYLKETONURIA (PKU)
DEFINITION phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. Amino acids are the building blocks for
http://www.medhelp.org/lib/pku.htm
DEFINITION: INCIDENCE: Classic PKU and the other causes of hyperphenylalaninemia affect about one of every 10,000 to 20,000 Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females. CAUSE: PKU and the other causes of hyperphenylalaninemia are inherited in a recessive fashion. This means an affected person inherited two traits for the disorder (e.s., one from each parent). A person with one trait for the disorder, is called a 'carrier' for PKU. Carriers do not have symptoms of the disorder. SYMPTOMS: TREATMENT:
  • QM v1.23/b
    • Origin: St Joseph's Medical Center Phoenix (602) 235-9653 (1:114/15.0)
    475/476 04 Aug 91 08:04:2
    From: grx0644@uoft02.utoledo.edu
    To: All
    Subj: 02/PKU Fact Sheet
    Attr: to reinstitute the PKU diet after a period of 'relaxation' to a regular diet, has been difficult for many individuals. Periodic phenylalanine blood level measurement, and the guidance of a nutritionist and other members of the health care team, allow individuals and families to work toward consistently maintaining the blood level in the desirable range. Fever and illness can cause normal body proteins to break down, the liberation of the body's own amino acids, and thus, a rise of the blood phenylalainine level. The physician and nutritionist can suggest dietary changes to help maintain levels in the desirable range during illness. Medical follow-up often involves periodic developmental screening. This checks for the expected normal development over time, and allows early recognition and intervention for problems.

2. Phenylketonuria
phenylketonuria (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of
http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html
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catalog of human genes and disorders Information National PKU News news and information about PKU GeneClinics a medical genetics resource PHENYLKETONURIA (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy. Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate. A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children.

3. MedlinePlus Medical Encyclopedia: Phenylketonuria
Definition, causes, symptoms and treatment.
http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
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Medical Encyclopedia
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Phenylketonuria
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Phenylketonuria test Phenylketonuria test Alternative names Return to top PKU Definition Return to top Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated. Causes, incidence, and risk factors Return to top Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected). The genetically determined abnormality in phenylketonuria is a missing enzyme called phenylalanine hydroxylase. Phenylalanine is one of the eight essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine and two closely related phenylalanine derivatives build up in the body. These compounds are toxic to the central nervous system and cause brain damage.

4. PKU (phenylketonuria)
phenylketonuria (PKU) Children's PKU Network (CPN ) 1520 State St. Suite 240 Phone (415) 4574632. National phenylketonuria Foundation. 6301 Tejas Drive
http://www.kumc.edu/gec/support/pku.html
Phenylketonuria (PKU)
Children's PKU Network (CPN )
1520 State St.,Suite #240 San Diego, CA 92101 Phone: (619) 233-3202 Fax: (619) 233-0838 E-mail: magol@gte.net or pkunetwork@aol.com Resources including videos and pamphlets for children
PKU News
PKU Parents
8 Myrtle Lane San Anselmo, CA 94960 Phone: (415) 457-4632
National Phenylketonuria Foundation
6301 Tejas Drive Pasadena, TX 77503 Phone: 713-487-4802
National PKU News
6869 Woodlawn Avenue NE - Suite 116 Seattle, WA 98115 206-525-8140 - Voice/FAX Contact: Virginia Schuett
Kansas PKU Network
E-mail: makingsd@ruraltel.net
Also See:

5. National PKU News: News And Information About Phenylketonuria
The National PKU News web site provides news and information about phenylketonuria, a rare, inherited metabolic disease. Features include newsletter articles, support information, dietrelated
http://www.pkunews.org/
pkunews.org;http://web47.radiant.net/~pkunews/; pkunews.org;http://web47.radiant.net/~pkunews/;

6. Phenylketonuria ( PKU ) - DrGreene.com
Read an article that explains a serious lifelong disease that can be diagnosed at birth and treated to prevent brain damage. PKU, Classic phenylketonuria, Benign hyperphenylalaninemia, Malignant
http://www.drgreene.com/21_1156.html
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Phenylketonuria
Related concepts:
PKU, Classic phenylketonuria, Benign hyperphenylalaninemia, Malignant hyperphenylalaninemia, Transient hyperphenylalaninemia. Introduction:
The sweetener aspartame, and many protein-rich foods, can act like poisons to children with PKU.

7. Phenylketonuria
phenylketonuria PKU. PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation.
http://gunsmoke.ecn.purdue.edu/~kpasquet/project/pku.html
Phenylketonuria - PKU
PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, most affected newborns are now diagnosed and treated early, allowing them to grow up free of mental retardation. About one baby in 15,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry. PKU is a disease that affects the way the body processes food. Children with PKU cannot process a part of protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. Children born with PKU appear normal for the first few months. Untreated, at three to five months they begin to lose interest in their surroundings and, by the time they are a year old, they are mentally retarded. Children with PKU often are irritable, restless and destructive. They may have a musty odor about them, and often have dry skin or rashes. Some have convulsions. Usually, they become physically well developed children, and have blonder hair than their relatives. PKU is inherited when both parents have the PKU gene and pass it on to their baby. A parent who has the PKU gene, but not the disease, is called a "carrier." A carrier has a normal gene as well as a PKU gene in each cell. A carrier's health is not affected in any known way. When both parents are carriers, there is a one-in-four chance that each will pass the PKU gene on to a child, causing it to be born with the disease. There also is a one-in-four chance that they will each pass on a normal gene, and the child will be free of the disease. There is a two-in-four chance that a baby will inherit the PKU gene from one parent and the normal gene from the other, making it a carrier like its parents. These chances are the same in each pregnancy.

8. OMIM - PHENYLKETONURIA

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600

9. For My Diet - Helping People With Chronic Disorders Manage Their Diets.
Software designed to benefit those managing the PKU (phenylketonuria) diet.
http://www.pkulife.com
Helping people with chronic disorders manage their diets. Home Information Message Board Shopping ... Diet Support - Get Condition Info - PKU MSUD Homocystinuria Tyrosinemia Organic Acidemias Glutaric Acidemia FODs Urea Cycle Disorders Newborn Screening Galactosemia Diabetes Kidney Disease Heart Disease Get All Documents -Get Condition Links- PKU MSUD Homocystinuria Tyrosinemia Organic Acidemias Glutaric Acidemia FODs Urea Cycle Disorders Newborn Screening Galactosemia Diabetes Kidney Disease Heart Disease Get All Links A portion of this month's item sales will be donated to National Urea Cycle Disorder Foundation More information Featured Link Organic Acidemia Association The Organic Acidemia Association is a voluntary not-for-profit self-help organization dedicated to providing information and support to families of children with inborn errors of metabolism. Go to www.oaanews.org... ...is now part of the ForMyDiet network! PKU Life PKU Life 1.0 is the first, and only, software application designed to benefit those managing the PKU diet (Phenylketonuria). PKU Life helps individuals with PKU and their caregivers with daily diet tasks.

10. PHENYLKETONURIA (PKU) We Re Sorry This Article Has Been Moved.
phenylketonuria (PKU) We re sorry this article has been moved. This article and many others may be found at http//www.medhelp
http://www.medhelp.org/general/pku.txt
PHENYLKETONURIA (PKU) We're sorry... this article has been moved. This article and many others may be found at: http://www.medhelp.org (tip: you can copy and paste the address into your browser)

11. MedlinePlus: Phenylketonuria
phenylketonuria. Printerfriendly version, E-mail this page to a friend. Search MEDLINE for recent research articles on • phenylketonuria.
http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
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12. Phenylketonuria - Learn More From MedlinePlus
Find the latest news stories, overviews, research and more on phenylketonuria from MedlinePlus, the National Library of Medicine's consumer health site.
http://rdre1.inktomi.com/click?u=http://www.nlm.nih.gov/medlineplus/phenylketonu

13. Redirect

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?261600

14. Phenylketonuria (PKU)
phenylketonuria (PKU). phenylketonuria is one of the commonest inherited disorders occurring in approximately 1 in 10,000 babies
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Phenylketonuria.html
Phenylketonuria (PKU)
Phenylketonuria is one of the commonest inherited disorders - occurring in approximately 1 in 10,000 babies born in the U. S. It occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase PAH ). This enzyme normally breaks down molecules of the amino acid phenylalanine that are in excess of the body's needs for protein synthesis. Because we inherit two copies of the gene for the enzyme, both must be defective to produce the disease. A laboratory test that measures how quickly an injection of phenylalanine is removed from the blood can distinguish a person who has one PKU gene from a person who has none, but the person with one is perfectly healthy because the unmutated allele produces enough of the enzyme. However, these heterozygous individuals are "carriers" of the disease. The phenylalanine tolerance test. A short time after administering a measured amount of phenylalanine to the subject, the concentration of phenylalanine in the blood plasma is measured. The level is usually substantially higher in people who carry one PKU gene (even though they show no signs of disease) than in individuals who are homozygous for the unmutated gene. Both parents must be heterozygous (i.e., must be "carriers" of the trait) to produce a child with PKU. The chance of their doing so is 1 in 4.

15. PKU Home Page
Visit the Department of Health website. We now have a special section for items that are found to be mislabelled. What is phenylketonuria (PKU)?
http://web.ukonline.co.uk/nspku/
An easier way to get to our site! var site="s10NSPKU" We have also set up a new chat forum. What Else Is New? 2004 AGM Details, Programme and Booking form New ESPKU Conference Abstracts (PDF file) PKU Information for Health Visitor (leaflet only available on the internet) Order NSPKU Merchandise Prescription Details Who gets them free, and what is available. Visit the Department of Health website. We now have a special section for items that are found to be mislabelled
What is Phenylketonuria (PKU)?
PKU is a genetic disorder which prevents the normal use of protein food. The condition can be treated with a high degree of success if diagnosed shortly after birth. The treatment is based on a low phenylalanine diet. Information provided by the NSPKU is intended for the use of people with PKU, their families and carers. More about PKU More about the NSPKU How to join the NSPKU More about NSPKU publications including conference abstracts. Links to other sites
How to contact the NSPKU
You may contact us:- by at nspku@ukonline.co.uk

16. NSPKU - National Society For Phenylketonuria
National Society for phenylketonuria (NSPKU). What is the National Society for phenylketonuria (NSPKU)? The NSPKU exists to help
http://web.ukonline.co.uk/nspku/mornspku.htm
National Society for Phenylketonuria (NSPKU)
What is the National Society for Phenylketonuria (NSPKU)?
The NSPKU exists to help and support people with PKU , their families and carers. It was formed in 1973, see history The NSPKU actively promotes the care and treatment of PKUs and works closely with medical professionals in the UK. It organises conferences and otherthroughout the UK, publishes a wide range of publications (including food lists) for parents, PKUs and medical professionals. Events - the NSPKU organises conferences and study days. Local support groups also hold study days and other events. The NSPKU also sponsors medical research into PKU. How to join the NSPKU How to contact the NSPKU News and Views quarterly newsletter ... Management of PKU - a document produced with a concensus of opinion from the leading medical authorities on PKU in the UK. Links to other PKU related sites Return to NSPKU Home Page NSPKU 1996-2004 - all rights reserved. Last updated 6th February 2004

17. Medical References: PKU
PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Maternal phenylketonuria.
http://www.marchofdimes.com/professionals/681_1219.asp
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Quick Reference and Fact Sheets PKU
PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are now diagnosed and treated early, allowing them to grow up with normal intelligence.
About one baby in 15,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is more common in individuals of Northern European and Native American ancestry than in those of African-American, Hispanic and Asian ancestry.
What is PKU? Due to a missing or deficient enzyme, children with PKU cannot process a part of the protein called phenylalanine, which is present in nearly all foods. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. How does PKU affect a child?

18. Texas Department Of Health-Phenylketonuria
phenylketonuria phenylketonuria (PKU) What is phenylketonuria? ( fennelkey-ton-uria) phenylketonuria (fennel-key-ton-uria) is often called PKU for short
http://www.tdh.state.tx.us/newborn/what_pku.htm
Newborn Screening
Case Management Program
Phenylketonuria (PKU)
What is Phenylketonuria? (fennel-key-ton-uria)
Phenylketonuria (fennel-key-ton-uria) is often called PKU for short. PKU is a condition some children have that affects their ability to properly use protein. The problem concerns one particular part of protein, the amino acid called phenylalanine ("phe" for short). When a person eats foods containing protein, enzymes break down the protein into separate amino acids as building blocks for body growth and repair. In PKU, one of the enzymes does not function properly, the one needed to convert "phe" into another amino acid, tyrosine. As a result, "phe" accumulates in the blood and other parts of the body. The excess "phe" prevents the brain from growing and developing normally. It also causes other problems such as skin rash, excessive restlessness, irritable behavior and a musty body odor.
HOW IS IT TREATED?
In addition to special formulas, the child with PKU can have foods that are low in protein and "phe" in measured amounts. This includes most fruits and vegetables, some cereals and candies and special breads, cookies and pastas. All high-protein foods such as milk, meat, eggs and cheese, which contain large amounts of "phe", must be completely eliminated from the diet. This diet record, with the exact kinds and amounts of food eaten, will need to be kept just before each monitoring blood test. The nutritionist will use this record to decide what changes, if any, need to be made in the diet prescription.

19. Phenylketonuria (PKU) / Family Village Library
phenylketonuria (PKU). It is dedicated to providing upto-date, accurate news and information to families and professionals dealing with phenylketonuria.
http://www.familyvillage.wisc.edu/lib_pku.htm
Phenylketonuria (PKU)
Who to Contact
Where to Go to Chat with Others

Learn More About It

Web Sites
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Who to Contact
Children's PKU Network
3790 Via De La Valle, Ste 120
Del Mar, CA 92014
800-377-6677 (toll-free)
858-509-0768 (fax)
E-mail: pkunetwork@aol.com Children's PKU Network is a non-profit agency founded in 1991by the parents of a child diagnosed with PKU (Phenylketonuria). The agency offers support through various programs to assist families with newly diagnosed infants with PKU and other metabolic disorders. A referral service serves as a medium for sharing information on obtaining needed services. A "Maternal PKU Express Pack" is available to women with PKU.
National PKU News
6869 Woodlawn Ave. NE #116 Seattle, WA 98115 (206) 525-5023 (fax) E-mail: schuett@pkunews.org Web: http://www.pkunews.org/ National PKU News is a non-profit organization located in Seattle, Washington. It is dedicated to providing up-to-date, accurate news and information to families and professionals dealing with phenylketonuria. I started the organization in the Spring of 1989, after 16 years as nutritionist for a large PKU clinic in Madison, Wisconsin. The organization relies on generous donations from subscribers to continue thriving (all donations are tax-deductible for US residents). National PKU News now has over 2000 subscribers who receive the organization’s newsletter. Most subscribers are from the US, but an increasing number are from other countries (35 countries are now represented among subscribers, from Canada, Western and Eastern Europe, South America, East Asia, and the Middle East). Subscribers include parents, young adults with PKU, professionals, grandparents, relatives, and other persons connected to families of affected persons. Subscribers also includes some families of children with other inherited metabolic diseases requiring a low protein diet. Please see the section "What is the newsletter?" for information about newsletter content.

20. Phenylketonuria
phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino acid
http://www.vitacost.com/science/hn/Concern/Phenylketonuria.htm

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