21. Phenylketonuria Information! phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started http://www.sweetpoison.com/phenylketonuria.html

Phenylketonuria (PKU) - Aspartame Phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. Elevations of blood phenylalanine are dangerous for those with PKU, and require treatment and modification. A child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation, but should avoid aspartame at all cost due to the 50% phenylalanine levels. Scientists have been able to show that carriers had higher phenylalanine levels in their urine than non-carriers.

22. 205.178.182.34/ Texas Department of HealthphenylketonuriaNewborn Screening Case Management Program. phenylketonuria (PKU). What is phenylketonuria? phenylketonuria (fennel-key-ton-uria) is often called PKU for short. http://205.178.182.34/

23. Texas Department Of Health-Phenylketonuria Newborn Screening Case Management Program. phenylketonuria (PKU). What is phenylketonuria? ¿Que es la fenilcetonuria? Texas Newborn http://www.tdh.state.tx.us/newborn/pku.htm

Newborn Screening Case Management Program Phenylketonuria (PKU) What is Phenylketonuria? ¿Que es la fenilcetonuria? Texas Newborn Screening Program-PKU Schedule of Assessments for Children with PKU ... NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU People with the rare metabolic disorder phenylketonuria need to adhere to the special diet central to their treatment, concluded a Consensus Panel convened by the National Institutes of Health. The conclusion addresses a long-standing difference of opinion about whether people with phenylketonuria could abandon the diet after early childhood. Application for Formula Assistance If you are a resident of the State of Texas and not eligible for private insurance, CSHCN Medicaid WIC , or CHIP , you may be eligible for financial assistance with PKU formula. Please complete the Application for Assistance with Metabolic Formula in Word or PDF (8KB) and mail to: Newborn Screening Program Texas Department of Health 1100 West 49th Street Austin, Texas 78756

24. 1961 and bacterial scientist at the University of Buffalo Children’s Hospital, developed a way to test whether newborn babies have phenylketonuria (PKU), an http://www.genome.gov/Pages/Education/Kit/main.cfm?pageid=38

25. Pku Or Phenylketonuria Is A Metabolic Disorder As Is Hyperphenylalaninemia. PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a nonprofit organization offering 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.

26. The Arc's Q & A On PKU phenylketonuria (PKU). What is PKU? PKU, which stands for phenylketonuria McKusick, 1994). QUICK FACTS. Condition phenylketonuria (PKU). Link to mental http://www.thearc.org/faqs/pku.html

Phenylketonuria (PKU) What is PKU? PKU, which stands for Phenylketonuria, is an inherited metabolic disease (also called an inborn error of metabolism) that leads to mental retardation and other developmental disabilities if untreated in infancy. With an inborn error of metabolism, the body is unable to produce proteins or enzymes needed to convert certain toxic chemicals into nontoxic products, or to transport substances from one place to another (Glanze, 1996). The body's inability to carry out these vital internal functions may result in neurological damage. In the case of PKU, the amino acid called phenylalanine accumulates. As phenylalanine builds up in the bloodstream, it causes brain damage. Infants with untreated PKU appear to develop typically for the first few months of life, but by twelve months of age most babies will have a significant developmental delay and will be diagnosed with mental retardation before school entry. How is PKU inherited? PKU is inherited as a single-gene disorder. Single-gene disorders are caused by a mutant or abnormal gene. They can be inherited in one of three patterns: autosomal dominant, autosomal recessive and X-linked. PKU is an autosomal recessive disorder. Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. In a recessive condition, an individual must have two defective genes in order to have the disorder. Individuals with only one copy of a defective gene are called "carriers," show no symptoms of having the disease, and usually remain unaware of their status until they have an affected child. In order for a child to inherit PKU, both parents must be PKU carriers. When this occurs, there is a one in four chance of their producing an affected child with each pregnancy. Boys and girls are equally at risk of inheriting this disorder.

27. NORD - National Organization For Rare Disorders, Inc. phenylketonuria. View Cart/Checkout. Copyright 1986, 1989, 1990, 1993, 1996, 1997, 1998, 1999, 2000, 2002, 2003, 2004 Synonyms of phenylketonuria http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Phenylketonur

28. EMedicine - Phenylketonuria : Article By Djordjije Karadaglic, MD, DSc phenylketonuria phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. phenylketonuria. Last Updated July 21, 2003, http://www.emedicine.com/derm/topic712.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Phenylketonuria Last Updated: July 21, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: PKU, phenylalanine hydroxylase, PAH, phenylalanine, phenylpyruvic acid, phenylacetic acid, hyperphenylalaninemia type I, Folling disease, Folling’s disease, phenylpyruvic oligophrenia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Djordjije Karadaglic, MD, DSc , President of Yugoslav Association of Dermatology and Venereology, Professor, Department of Dermatology and Venereology, Military Medical Academy of Belgrade, Serbia and Montenegro Coauthor(s): Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Lecturer, Head, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Serbia and Montenegro; Zeljko P Mijuskovic, MD

29. EMedicine - Phenylketonuria : Article By Georgianne L Arnold, MD phenylketonuria phenylketonuria (PKU) is an inborn error of protein metabolism that results from an impaired ability to metabolize the essential amino acid http://www.emedicine.com/ped/topic1787.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Phenylketonuria Last Updated: May 20, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: PKU, Folling disease, Folling's disease AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Georgianne L Arnold, MD , Director of Inherited Metabolic Disorders Clinic, Associate Professor, Department of Pediatrics and Genetics, University of Rochester School of Medicine and Dentistry Georgianne L Arnold, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics , and American Society of Human Genetics Editor(s): Christian J Renner, MD , Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany; Robert Konop, PharmD

30. Phenylketonuria: What Is It? Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders phenylketonuria, PKU, autosomal recessive, genetic disorder. http://www.ygyh.org/pku/whatisit.htm

Concept 15 : DNA and proteins are key molecules of the cell nucleus. Learn the basic chemistry of DNA and proteins. Concept 27 : Mutations are changes in genetic information. Find out how mutations affect gene expression.

31. Discovery Health Phenylketonuria phenylketonuria, which is also called PKU, is an inherited condition in which the body cannot process a substance called phenylalanine. http://health.discovery.com/diseasesandcond/encyclopedia/1692.html

32. Phenylketonuria phenylketonuria. Definition. 1st ed. New York Pantheon Books, 2001. Schuett, Virginia E. Low Protein Cookery For phenylketonuria. http://www.healthatoz.com/healthatoz/Atoz/ency/phenylketonuria.html

Encyclopedia Index P Home Encyclopedia Encyclopedia Index P Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation , is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue. PKU is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism." PKU is incurable, but early, effective treatment can prevent the development of serious mental incapacity. Description PKU is a disease caused by the liver's inability to produce a particular type of PAH enzyme. This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body. A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain. Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and causes irreversible abnormalities in brain structure and function in PKU patients. Phenylalanine is a type of teratogen. Teratogens are any substance or organism that can cause birth defects in a developing fetus.

33. PKU Search Our Site! phenylketonuria (PKU) An Amino Acid Disorder What is it? Studies show that 1 of every 17,000 live births will have phenylketonuria. http://www.savebabies.org/diseasedescriptions/pku.php

Search Our Site! Phenylketonuria (PKU) An Amino Acid Disorder What is it? Phenylketonuria (PKU) is a hereditary disease that is caused by the lack of a liver enzyme required to digest phenylalanine. Phenylalanine is an amino acid that is most commonly found in protein containing foods such as meat, cow's milk, over the counter infant formulas (both regular and soy) and breast milk. Inheritance and Frequency The gene defect for phenylketonuria is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect. Studies show that 1 of every 17,000 live births will have phenylketonuria. Newborns affected by PKU usually do not show any signs of the disease at birth. But within the first few weeks of life they begin to show neurologic disturbances such as epilepsy. Children suffering from undiagnosed PKU also may have an unpleasant, musty smell. It has been shown that almost 90% of affected people have blond hair and blue eyes. Signs also include skeletal changessuch as a small head, short stature, and flat feet. PKU sufferers may also have a skin disorder called eczema. Long Term Effects PKU affected children who are not diagnosed and do not eliminate phenylalanine from the diet, will suffer from irreversible brain damage and mental retardation. Properly treated individuals should live a normal, healthy life.

34. Phenylketonuria - Wikipedia, The Free Encyclopedia phenylketonuria. From Wikipedia, the free encyclopedia. External links. http//www.ultranet.com/~jkimball/BiologyPages/P/phenylketonuria.html. http://en.wikipedia.org/wiki/Phenylketonuria

Phenylketonuria From Wikipedia, the free encyclopedia. Phenylketonuria "fee-nil-kee-ton-yur-ee-aah"+ (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland PKU usually is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. A rarer form of the disease occurs when PAH is normal but its cofactor tetrahydrobiopterin (BH ) is not synthesised by the patient. This enzyme normally converts the amino acid phenylalanine to tyrosine . If, due to a faulty or missing enzyme, this reaction does not take place, levels of phenylalanine in the body can be far higher than normal, and levels of tyrosine lower than normal. Excess phenylalanine in the blood harms brain development in the child, leading to mental retardation ; low levels of tyrosine leads to lowered production of the pigment melanin , so children with this condition tend to be fair haired and blue eyed. The excess phenylalanine is converted instead into phenylketones, which are excreted in the urine - hence the name for this condition. The

35. Phenylketonuria CTFPHC Systematic Reviews Recommendations. Please select the format in which you want to view this review Screening for phenylketonuria. http://www.ctfphc.org/Sections/section02ch017.htm

Please select the format in which you want to view this review: Screening for Phenylketonuria Full Text - The Entire Review .htm (stay on CTFPHC site and browse the review) .pdf (go to Health Canada Site to download Adobe document) Structured Abstract ... Recommendations (Table only) Selected References Back to Pediatric Preventive Care CTFPHC Home Page Canadian Task Force on Preventive Health Care For any technical issues please contact: webmaster@ctfphc.org Last modified: June 10, 1998.

36. CTF Full Text Review: Phenylketonuria Screening for phenylketonuria. UpOverview. There is good evidence for universal newborn screening and treatment for phenylketonuria (PKU). http://www.ctfphc.org/Full_Text/Ch17full.htm

Canadian Task Force on Preventive Health Care Full Text Review Please note: In 2003, the CTF updated its Grades of Recommendations to include an "I Recommendation" for situations where insufficient evidence exists to allow a recommendation to be made. (Formerly, these situations were captured under a "C Recommendation".) This change is not retroactive, and all "C Recommendations" made prior to 2003 have not been reevaluated in light of the new "I" recommendation grade. For a discussion of these recommendation grades, please link to the 2003 article in the Canadian Medical Association Journal here Screening for Phenylketonuria Adapted by William Feldman, MD, FRCPC, Department of Pediatrics, University of Toronto, from the report prepared for the US Preventive Services Task Force by Robert Baldwin, MD and Modena E.H. Wilson, MD, MPH These recommendations were finalized by the Task Force in October 1993 Contents Overview Burden of Suffering Efficacy of Screening Tests Recommendations of Others ... Acknowledgements Overview There is good evidence for universal newborn screening and treatment for phenylketonuria (PKU). (A Recommendation) Since such programs have been implemented, mental handicap due to PKU has virtually disappeared. Screening for PKU is recommended for all newborns prior to discharge from the nursery. Infants who are tested before 24 hours of age should receive a repeat screening test between 2-7 days of age. There is insufficient evidence to recommend for or against prenatal screening for maternal PKU. (C Recommendation)

37. NSPKU Home Contact us. What is the National Society for phenylketonuria (NSPKU)? Copyright © 2004 National Society for phenylketonuria Last modified 07 April, 2004. http://www.nspku.org/

[ Home ] News What is PKU What is the NSPKU Publications ... Donate Welcome to the new look NSPKU web site. Please follow the links at the side and the top of these pages to navigate around the web site or use the quick links below to find the most popular items. Quick links Introduction - what is PKU News Dietary information booklets The Management of PKU booklet ... News and Views - our quarterly magazine - Issue 108 now available Recent conference th March AGM and study day. Click here to view pictures and download Anita's presentation. Contact us 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 others throughout 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.

38. Issues In Newborn Screening For Phenylketonuria - October 1, 1999 - American Aca Issues in Newborn Screening for phenylketonuria. TABLE 1 Followup Testing in Response to the Initial Results of Newborn phenylketonuria Screening. http://www.aafp.org/afp/991001ap/1462.html

Advanced Search Issues in Newborn Screening for Phenylketonuria RICHARD K. KOCH, M.D. University of Southern California School of Medicine, Los Angeles, California The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test should be performed. Treatment to prevent sequelae from this disorder is best carried out in cooperation with an experienced PKU center. Dietary care is expensive, and financial assistance may be necessary for many families. A phenylalanine-restricted diet should be started as soon as possible. Occasionally, cases of PKU are missed by newborn screening. Thus, a repeat PKU test should be performed in an infant who exhibits slow development. (Am Fam Physician 1999;60:1462-6.) P henylketonuria (PKU) is caused by an autosomal recessive defect in the enzyme phenylalanine hydroxylase, which is required for converting phenylalanine to tyrosine. (Five percent of natural protein is composed of phenylalanine.) The mutation that causes PKU is located on chromosome 12. The specific type of mutation varies, resulting in variable severity in the clinical course of the disorder. Untreated, PKU results in severe mental retardation, but the exact pathogenesis of the mental defect is still not clear.

39. Practice Guidelines - April 1, 2001 - American Family Physician AFP April 1, 2001. Practice Guidelines. NIH Consensus Statement on phenylketonuria Karen L. Hellekson, Ph. D. The National Institutes http://www.aafp.org/afp/20010401/practice.html

Advanced Search Practice Guidelines NIH Consensus Statement on Phenylketonuria Karen L. Hellekson, Ph. D. The National Institutes of Health (NIH) has released a consensus statement on the screening and management of phenylketonuria (PKU). The statement, which was prepared by a nonadvocate group of experts who work in the field, is not an official document of the NIH or the federal government, but rather an independent panel report. The panel met in October 2000 to develop the consensus statement. This conference was presented by the National Institute of Child Health and Human Development and the NIH Office of Medical Applications of Research. The complete text of the consensus statement may be found on the NIH Web site at http://consensus.nih.gov The panel heard expert presentations and public discussion on the biology and biochemistry of PKU, epidemiology and genetics, screening strategies and treatment regimens. On the basis of this information, the panel drafted a consensus statement that addressed, among others, the following questions: What are the incidence and prevalence of PKU and other forms of hyperphenylalaninemia?

40. [Clinical Preventive Services] Screening For Phenylketonuria Guide to Clinical Preventive Services, Second Edition Congenital Disorders Screening for phenylketonuria. Phenylpyruvic oligophrenia (phenylketonuria). http://cpmcnet.columbia.edu/texts/gcps/gcps0054.html

Guide to Clinical Preventive Services, Second Edition Congenital Disorders Screening for Phenylketonuria RECOMMENDATION Screening for phenylketonuria (PKU) by measurement of phenylalanine level on a dried-blood spot specimen is recommended for all newborns prior to discharge from the nursery. Infants who are tested before 24 hours of age should receive a repeat screening test by 2 weeks of age. There is insufficient evidence to recommend for or against routine prenatal screening for maternal PKU, but recommendations against such screening may be made on other grounds. Burden of Suffering Accuracy of Screening Tests Blood phenylalanine determination by the Guthrie test has been the principal screening test for PKU for three decades.7 Although well-designed evaluations of the sensitivity and specificity of the Guthrie test have never been performed,8 sensitivity estimates9,10 and international experience with its use in millions of newborns suggest that false-negative results are rare. Fluorometric assays, which can detect differences in blood phenylalanine levels as low as 0.1 mg/dL, are alternative forms of testing that also offer excellent sensitivity.8 Most missed cases of PKU do not appear to be due to false-negative results of the screening tests, but to submission of an inadequate sample, clerical error involving the sample, or failure to follow up positive results.9 Standards for adequate blood collection on filter paper for neonatal screening programs have been published.10a

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