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

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View PAH on chromosome 12 Databases PubMed the literature LocusLink collection of gene-related information OMIM 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.

2. MEDLINEplus Medical Encyclopedia: Phenylketonuria A description of phenylketonuria, along with details of the causes, incidence and risk factors.Category Health Conditions and Diseases phenylketonuria......phenylketonuria. 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

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Phenylketonuria Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations 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

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 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 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

Skip navigation Other health topics: A B C D ... List of All Topics Phenylketonuria Contents of this page: General/Overviews Diagnosis/Symptoms Nutrition Prevention/Screening ... Organizations Search MEDLINE for recent research articles on Phenylketonuria You may also be interested in these MEDLINEplus related pages: Genetic Disorders Brain and Nervous System Genetics/Birth Defects General/Overviews Phenylketonuria (PKU) (Save Babies Through Screening) PKU (March of Dimes Birth Defects Foundation) Also available in: Spanish Diagnosis/Symptoms How Is Phenylketonuria Diagnosed? (Dolan DNA Learning Center) Nutrition Aspartame - What the Body Does With It (Mayo Foundation for Medical Education and Research) Look-Alike Foods: A Solution or a Pandora's Box? (University of Washington PKU Clinic) What is the Diet for PKU? (University of Washington PKU Clinic) Prevention/Screening Newborn Screening Tests (March of Dimes Birth Defects Foundation) Also available in: Spanish Specific Conditions/Aspects Babysitter's Guide to PKU (University of Washington PKU Clinic) How Is Phenylketonuria Inherited?

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/

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. What is PKU? Newborn Express Packs / Maternal Express Packs Scale Purchases and Information Crisis Intervention Applications / Scholarship Applications / Clearinghouse Donations Related Metabolic Disorders PKU-related Links Food/Formula Supplier Links Let us help you! 3790 Via De La Valle, Ste 120, Del Mar, CA 92014 Phone: (800) 377-6677(toll-free) / (858) 509-0767 / Fax: (858) 509-0768 Email: pkunetwork@aol.com 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

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. Hyperphenylalaninaemia can damage brain tissue. In the past, before PKU was understood, children with PKU were often placed in institutional care as a result of their severe mental retardation and frequent convulsions. 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. To find out more about PKU please choose from the selection below.

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

PKU Life .com Add Favorite ... Shopping Cart PKU Information The Phe Browser PKU Links Join Email List Cook Books Creative Family Cooking Accessories MACPAD T-Shirt Mini Flip-Top Calculator Software PKU Life Mobile PKU Life ... Information Mobile PKULife DB This PDA database is designed to be used with MobileDB. It contains 1929 foods. Each food includes food name, food category, serving amount, serving weight, Phe per serving, calories per serving, and Phe per gram. Using MobileDB software from Handmark you can take advantage of features like detail views, searching, sorting, and adding new foods. PKU Life (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. Free Mini Flip-Top Calculator with the purchase of this item. Creative Family Cooking - Recipes and Menu Planning for PKU This cookbook contains over 125 exciting recipes, quick meal ideas, recipes, menu planning suggestions, tips to enhance the PKU diet, personal menu planning charts and information on low protein food suppliers. It even includes Phe calculations!

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

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 1996-2001 - 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/

pkunews.org;http://web47.radiant.net/~pkunews/; pkunews.org;http://web47.radiant.net/~pkunews/;

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

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

Redirection Notice 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 Biochemical Genetics The Montreal Children's Hospital

13. PHENYLKETONURIA (PKU) A description of phenylketonuria along with a look at the causes, incidence, symptoms and treatment.Category Health Conditions and Diseases phenylketonuria......DEFINITION 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

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.

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

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

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

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: 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

Phenylketonuria (PKU) Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Phenylketonuria" Who to Contact Children's PKU Network 1520 State Street, Suite 240 San Diego, CA 92101 Phone (619) 233-3202 FAX (619) 233-0838 National PKU News 6869 Woodlawn Ave. NE #116 Seattle, WA 98115 (206) 525-5023 (fax) E-mail: fergie@msn.com Where to Go to Chat with Others PKU-Support-L 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. To join the list, send a message to: LISTSERV@LISTSERV.CC.EMORY.EDU In the body of the message type: Subscribe PKU-Support-L Yourfirstname Yourlastname Or, visit the

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/

pkunews.org;http://web47.radiant.net/~pkunews/; pkunews.org;http://web47.radiant.net/~pkunews/;

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