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Phenylketonuria:     more books (92)

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 Phenylketonuria - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-02-13 Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01 Phenylketonuria by frank lyman, 1963-01-01 The Official Parent's Sourcebook on Phenylketonuria by James N. Parker, Icon Health Publications, 2002-07 Phenylketonuria: Webster's Timeline History, 1934 - 2007 by Icon Group International, 2009-06-06 Phenylketonuria and some other inborn errors of amino acid metabolism: biochemistry, genetics, diagnosis, therapy Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria Low Protein Cookery for Phenylketonuria by Virginia E. Schuett, 1997-08-15 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 Phenylketonuria Phenylketonuria Detection in Newborn Infant As a Routine Hospital Procedure by Robert Guthrie, Stewart Whitney, 1965 Alzheimer's-like symptoms reversible in PKU patients. (phenylketonuria): An article from: Medical Update Phenylketonuria; A Selected Bibliography by United States. Children's Bureau, 2010-03-26

lists with details

1. Phenylketonuria
   An article with full explanation as to what this disease is.Category Health Conditions and Diseases phenylketonuria resource. phenylketonuria (PKU) is an inherited error of metabolismcaused by a deficiency in the enzyme phenylalanine hydroxylase.  
   http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html
   
   Extractions: 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.

2. MEDLINEplus Medical Encyclopedia: Phenylketonuria
   A description of phenylketonuria, along with details of the causes, incidence and risk factors.Category Health Conditions and Diseases phenylketonuriaphenylketonuria. phenylketonuria (PKU) is inherited as an autosomal recessive trait(both parents must pass on the defective gene for the child to be affected).  
   http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
   
   Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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.

3. PKU Home Page
   Group provides facts about the disease, details on how to join the society, and links to other sites. What is phenylketonuria (PKU)? PKU is a genetic disorder which prevents the normal use of protein food.  
   http://web.ukonline.co.uk/nspku
   
   Extractions: Welcome to the NSPKU Home Page var site="s10NSPKU" We have also set up a new chat forum. What Else Is New? NSPKU AGM, booking form, and details. PLEASE BE AWARE THIS IS A ONE DAY EVENT! 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 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 You may contact us:- by at nspku@ukonline.co.uk by at NSPKU, P. O. Box 26642, London, N14 4ZF

4. MEDLINEplus: Phenylketonuria
   phenylketonuria Search MEDLINE for recent research articles on. phenylketonuria  
   http://www.nlm.nih.gov/medlineplus/phenylketonuria.html

5. Pku Or Phenylketonuria Is A Metabolic Disorder As Is Hyperphenylalaninemia.
   Information about the organization and contact details as well as links to data about phenylketonuria.  
   http://www.pkunetwork.org/
   
   Extractions: Updated March 2001 The information contained in the Children's PKU Network web site is for educational and informational purposes only, and is not intended to replace, and should not be interpreted or relied upon as, professional advice, whether medical or otherwise. This web site was originally created and donated by the Defense Technical Information Center - MATRIS Office as part of Hands On San Diego 2000, a volunteer program. 09/2000 PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a non-profit organization offering newborn screening to detect these diseases in their early stages.

6. Phenylketonuria - The Genetics
   An overview of the gentical aspects of phenylketonuria inheritance, mutations, diagnosis and biochemical defects, Roberts, Roberts, mobile, disco, UK, Outside broadcast phenylketonuria, abbreviated to PKU, is a disease caused by a common inherited disorder in the way our body processes  
   http://www.willroberts.com/pku
   
   Extractions: Phenylketonuria, abbreviated to PKU, is a disease caused by a common inherited disorder in the way our body processes proteins. The problem lies in an enzyme which converts phenylalanine, an amino acid into another amino acid, tyrosine. The consequence of this is that phenylalanine builds up in the body to high levels. This is a state called hyperphenylalaninaemia, it can be caused by diseases other than PKU. The good news is that if diagnosed early the effects of this disorder can be greatly reduced by removing phenylalanine from the diet of newborn babies. This has lead to the introduction of extensive screening programs in the UK and other countries, and the number of people suffering the effects of PKU has greatly decreased. There is also evidence that hyperphenylalaninaemia in pregnant mothers with PKU may cause 'maternal phenylketonuria' which results in symptoms in the child similar to those in PKU irrespective of the child's PKU status.

7. PKULife.com - Your Source For PKU (Phenylketonuria) Software And Products
   Software designed to benefit those managing the PKU (phenylketonuria) diet.  
   http://www.pkulife.com
   
   Extractions: (Reg. $39.95) 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, such as: daily intake, meal planning, phe calculation, recipe calculations, food searching, and more.

8. NSPKU - National Society For Phenylketonuria
   National Society for phenylketonuria (NSPKU). What is the NationalSociety for phenylketonuria (NSPKU)? The NSPKU exists to help  
   http://web.ukonline.co.uk/nspku/mornspku.htm
   
   Extractions: 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 1996-2001 - all rights reserved. Last updated 8th March 2001

9. National PKU News: News And Information About Phenylketonuria
   Site includes news and information about phenylketonuria, a rare inherited metabolic disease.  
   http://pkunews.org/

10. 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).  
    http://www.ultranet.com/~jkimball/BiologyPages/P/Phenylketonuria.html
    
    Extractions: 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.

11. Med Help PKU
    A description of phenylketonuria along with a look at the causes, incidence, symptoms and treatment.  
    http://medhlp.netusa.net/lib/pku.htm

12. Redirection Notice
    Some cause phenylketonuria, others cause nonPKU hyperphenylalaninemia, while still others are silent polymorphisms  
    http://www.mcgill.ca/pahdb
    
    Extractions: The document "PAHdb Website" has been renamed and relocated to the URL below. http://www.pahdb.mcgill.ca If you have a bookmark or reference to this URL, please change it to link to that location. If a link from another Web page brought you here, please notify the maintainer of that page, if possible, that the link needs to be updated. Comments to: many@debelle.mcgill.ca

13. PHENYLKETONURIA (PKU)
    A description of phenylketonuria along with a look at the causes, incidence, symptoms and treatment.Category Health Conditions and Diseases phenylketonuriaDEFINITION phenylketonuria (PKU) is a genetic disorder that is characterized byan inability of the body to utilize the essential amino acid, phenylalanine.  
    http://www.medhelp.org/lib/pku.htm
    
    Extractions: 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: 475/476 04 Aug 91 08:04:2 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.

14. Phenylketonuria: What Is It?
    PKU link, DNA Learning Center Link, Concept 15 DNA and proteins are key moleculesof the cell nucleus. Learn the basic chemistry of DNA and proteins.  
    http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=pku

15. Phenylketonuria Hub
    Links to information and resources.  
    http://www.genomelink.org/phenylketonuria

16. Phenylketonuria (PKU)
    phenylketonuria (PKU). phenylketonuria is one of the commonest inheriteddisorders occurring in approximately 1 in 10,000 babies  
    http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Phenylketonuria.html
    
    Extractions: 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.

17. Maternal Phenylketonuria (RE0024)
    February 2001, pp 427428. Maternal phenylketonuria (RE0024). ABBREVIATIONS.PKU, phenylketonuria; Phe; phenylalanine; PAH, phenylalanine hydroxylase.  
    http://www.aap.org/policy/re0024.html
    
    Extractions: Policy Statement Pediatrics Volume 107, Number 2 February 2001, pp 427-428 Maternal Phenylketonuria (RE0024) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics ABSTRACT. Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy. ABBREVIATIONS. PKU, phenylketonuria; Phe; phenylalanine; PAH, phenylalanine hydroxylase. Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism associated with deficient activity of phenylalanine hydroxylase (PAH) and elevated levels of Phe and Phe metabolites. Untreated, the disorder results in severe to profound psychomotor handicaps, seizures, autistic-like behaviors, microcephaly, rashes, pigment dilution, and unusual body odors. Since the 1960s, newborn screening for PKU has allowed early detection and treatment of the disorder. Current treatment consists of dietary therapy that uses special medical foods that are devoid of or low in Phe and that are supplemented with tyrosine, the product of PAH activity. Depending on the degree of control during early childhood, most affected children have psychomotor development comparable to that of their peers at school entrance. Although dietary control is recommended for life, loss of dietary compliance frequently starts during mid childhood. By late adolescence, many affected persons, including females capable of reproduction, have stopped using special medical foods, and most have blood Phe levels above the current recommended therapeutic range.

18. PKU (phenylketonuria)
    phenylketonuria (PKU) NSPKU; PKU Listserv magol@gte.net; Dietary Specialties;History of phenylketonuria screening in the US, September 1997.  
    http://www.kumc.edu/gec/support/pku.html
    
    Extractions: Phenylketonuria (PKU) PKU News National organizations with information on genetic conditions or birth defects PKU Resource Booklet for Families , Montreal Children's Hospital Wellness Interactive Network , search for PKU PKU of Florida National Health Information Center (NHIC) search for PKU NSPKU PKU Listserv: magol@gte.net Dietary Specialties History of phenylketonuria screening in the U.S. , September 1997. Final Report of the Task Force on Genetic Testing. National Human Genome Research Institute Restricted Preconception Diet for Women with PKU recommended , American College of Obstetricians and Gynecologists (ACOG) You and PKU booklet by Margaret Taylor and Virginia Schuett (Waisman Center on Mental Retardation and Human Development) (1978)

19. The Family Village / Library / Phenylketonuria (PKU)
    Library O P. phenylketonuria (PKU). PKU This list was created and is maintainedfor children and teens that are living with phenylketonuria (PKU).  
    http://www.familyvillage.wisc.edu/lib_pku.htm
    
    Extractions: The purpose of this list is to provide a vehicle for communication among families of children born with PHENYLKETONURIA (PKU), for young adults with PKU, and for professionals treating PKU. The purpose of the list is to share experiences in managing PKU, specifically sharing cooking tips, low protein recipes, issues related to diet management, low protein food sources, and information about other support groups. This list is a forum for families to share opinions, advice and experiences with PKU treatment.

20. National PKU News: News And Information About Phenylketonuria
    The National PKU News web site provides news and information aboutphenylketonuria, a rare, inherited metabolic disease. Features  
    http://www.pkunews.org/

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