61. Mild Phenylketonuria (PKU) General Overview Frequently asked questions about Mild phenylketonuria PKU that briefly describes the body’s normal metabolic process, the different forms and effects. http://www.doh.wa.gov/EHSPHL/PHL/Newborn/mildpkugo.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home »Mild PKU General Overview Page Search Employees Site Directory: Mild Phenylketonuria (PKU) General Overview Page Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What should I know about Mild PKU? Below are some frequently asked questions. If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description Related Links pages or contact us with your specific question. (click here for printer friendly version of this information in pdf format) Please see the viewer page for free software to enable viewing of pdf files. What is phenylketonuria or PKU? Is there only one form of PKU? How does the body normally process phenylalanine? What happens to phenylalanine in a child with mild PKU? ... How common is mild PKU? Q. What is phenylketonuria or PKU? A. Phenylketonuria (PKU) is a treatable disorder that affects the way the body processes protein. Children with PKU cannot use a part of the protein called phenylalanine.

62. Phenylketonuria Consensus Development Conference on phenylketonuria (PKU) Screening and Management, October 1618, 2000. Genetics and Public Health in the 21st Century. http://www.healthatoz.com/healthatoz/Atoz/ency/phenylketonuria.jsp

63. Phenylketonuria: Definition And Much More From Answers.com phen·yl·ke·to·nu·ri·a ( fen ?lket n-?r e-?, -y?r -, fe n?l- ) n. ( Abbr. PKU ) A genetic disorder in which the body lacks the enzyme. http://www.answers.com/topic/phenylketonuria

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Dictionary Encyclopedia Health Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping phenylketonuria Dictionary phen·yl·ke·to·nu·ri·a fĕn əl-kēt n-ʊr ē-ə, -yʊr -, fē nəl- n. Abbr. PKU A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products. phen yl·ke to·nu ric Encyclopedia phenylketonuria fĕn əlkēt ənʊr ) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. Most states have made the PKU blood or urine test mandatory for all newborn infants. Health phenylketonuria (fen-l-keet-n- oor -ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an

64. Phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 2001-05 phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 200105. http://www.bartleby.com/65/ph/phenylke.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference Columbia Encyclopedia PREVIOUS NEXT ... BIBLIOGRAPHIC RECORD The Columbia Encyclopedia, Sixth Edition. phenylketonuria (f lk n KEY ) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. Most states have made the PKU blood or urine test mandatory for all newborn infants.

65. Phenylketonuria. The New Dictionary Of Cultural Literacy, Third Edition. 2002 phenylketonuria. The New Dictionary of Cultural Literacy, Third Edition. 2002. http://www.bartleby.com/59/22/phenylketonu.html

Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference The New Dictionary of Cultural Literacy Medicine and Health PREVIOUS ... BIBLIOGRAPHIC RECORD The New Dictionary of Cultural Literacy, Third Edition. phenylketonuria (fen-l-keet-n- OOR -ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an

66. BBC - Health - Conditions - Phenylketonuria A guide to phenylketonuria. phenylketonuria (PKU) is an inherited enzyme deficiency that, if not detected early, can result in brain damage. http://www.bbc.co.uk/health/conditions/phenylketonuria1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Phenylketonuria Dr Trisha Macnair Phenylketonuria (PKU) is an inherited enzyme deficiency that, if not detected early, can result in brain damage. In this article What is it? What are the symptoms? What treatment is available? Who is affected? What is it? The enzyme phenylalanine hydroxylase normally converts an amino acid called phenylalanine (which is present in food proteins) into another called tyrosine. Phenylalanine is an essential amino acid - the body must have it to grow and function properly. But too much can be harmful, so the body regulates levels by converting it to tyrosine. In PKU, levels of the enzyme are low and only limited amounts can be converted to tyrosine, so phenylalanine can build up in the blood and other body tissues, particularly the brain, where it can cause severe and irreversible damage. What are the symptoms? If PKU is not detected early there is progressive development delay and severe learning difficulties. Epilepsy (fits) are common and other problems include eczema. Children typically have very fair hair, and the urine has a characteristic musty smell.

67. ScienceNOW -- Sign In Currently, the main treatment for phenylketonuria is a strict diet low in phenylalanine. JOCELYN KAISER. Related site More info on phenylketonuria http://sciencenow.sciencemag.org/cgi/content/full/2005/603/1

You do not have access to this item: Full Text : Kaiser, Gene Therapy Cures Phenylketonuria in Mice, ScienceNOW You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. Science NOW Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Subscribe to Science NOW Sign Up More Info Site Pass 24 hours for US $10.00 from your current computer Regain Access to a recent Site Pass purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

68. Phenylketonuria phenylketonuria hereditary metabolical disease. phenylketonuria (hereafter PKU) is a desease which developes because of the inborn error in a complex http://www.fenilketonurija.hr/Engleski/Phenylketonuria.htm

Phenylketonuria Hereditary metabolical desease. Here you can find out about it's characteristics. More about phenylketonuria Inborn error in metabolism. Here you can read about principles of dietary treatment. Filter paper You can see the image of the filter paper from wich the concentration of phenylalanine is determined in laboratory. Other countries When is the newborns' screening for PKU done in other countries . Diet A low-protein diet and foods. About the preparation necessary for growth and living of affected persons. Links Links of some other countries' PKU related pages. Members' correspondance and photos You can write to members of the Association, and see some photos from our last meeting. Contacts Contact the members of the Association' presidency.

69. Phenylketonuria (pku) Definition phenylketonuria (pku). Definition. Search for. Glossary word, Glossary - def, Textbooks, Protocols, Images, Tools, Forum, PubMed, Links, Press Releases http://www.biochem.northwestern.edu/holmgren/Glossary/Definitions/Def-P/phenylke

Genes / Proteins Definitions Models Developmental Models ... Z phenylketonuria (pku) Definition: Search for: Glossary - word Glossary - def Textbooks Protocols Images Tools Forum PubMed Links Press Releases Biology Glossary search by EverythingBio.com A human metabolic disease caused by a mutation in a gene coding for a phenylalanine processing enzyme (phenylalanine hydroxylase), which leads to accumulation of phenylalanine and mental retardation if not treated; inherited as an autosomal recessive phenotype. A B C D ... Home Website created and maintained by: Mark Lefers and the Holmgren Lab last updated: July 26, 2004

70. NORD - National Organization For Rare Disorders, Inc. Synonyms of phenylketonuria. Classical phenylketonuria; Hyperphenylalanemia; PKU phenylketonuria (PKU) is an inborn error of metabolism that is http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Phenylketonur

71. Phenylketonuria (PKU) phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by a defect in a specific protein – an enzyme called phenylalanine hydroxylase (PAH) http://www.dhss.mo.gov/Lab/Newborn/PKU.html

DHSS Home State Home Ask Us Home ... Contact Us breadCrumbs("main",">>","index.htm","crumb","crumb","crumb","0"); Phenylketonuria (PKU) Prevalence: Analytes Measured: Phenylalanine (Quantitative) Reporting Results: Normal: The final newborn screening reports are mailed to the submitter and physician of record. Borderline: 3.0-4.9 mg/dL Final PKU results are phoned to the physician/health care provider and faxed. Final newborn screening reports are mailed by certified mail to the submitter and physician of record. Positive: 5.0 mg/dL or greater Final PKU results are phoned to the physician/health care provider and faxed. Final newborn screening reports are mailed by certified mail to the submitter and physician of record. Feeding/Timing Effect: Minimal. A protein feeding of 24 hours or greater is necessary for optimal screening results. The use of quantitative phenylalanine measurements increases the ability to detect PKU earlier in the baby’s life than previously used qualitative assays. Final Results Test Results Likely Causes Actions Normal No indication of a defect, see comment under section "Feeding/Timing Effect"

72. Phenylketonuria (PKU) phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot break down a substance in food, called phenylalanine. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Phenylketonuria_(

73. Phenylketonuria Medical Information phenylketonuria Information from Drugs.com. phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly http://www.drugs.com/enc/phenylketonuria.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Phenylketonuria Injury Disease Nutrition Poison ... Phenylketonuria test Phenylketonuria Definition 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. Alternative Names PKU Causes 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 1 of the 8 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 2 closely-related phenylalanine derivatives, build up in the body. These compounds are toxic to the

74. AllRefer Health - Phenylketonuria (PKU) phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/phenylketonuria-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Phenylketonuria Phenylketonuria Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : PKU Definition 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. Phenylketonuria Test Phenylketonuria Test 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.

75. Utah Newborn Screening Congenital Hypothyroidism Button Galactosemia Button Hemoglobinopathies Button phenylketonuria Button Statistics Button MSMS Pilot Study Button http://www.health.utah.gov/newbornscreening/PKU.htm

Phenylketonuria (PKU) Medical Newletters Fact Sheets for Parents What causes the condition? The body cannot breakdown certain part so proteins (the amino acid pheylalanine) How often does it occur? One in 15,000 births What happens if it's not found and treated? Children become mentally retarded How is it treated? A special diet health.utah.gov Home Utah.gov Accessibility Policy

76. Parenting A Child With Phenylketonuria Information for parents on diagnosing, treating, and caring for a child with phenylketonuria. http://specialchildren.about.com/od/phenylketonuria/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Medical Issues Phenylketonuria Special Children Essentials Back to School Parenting How-To's ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Parenting Special Needs newsletter! See Online Courses Search Parenting Special Needs Phenylketonuria Information for parents on diagnosing, treating, and caring for a child with phenylketonuria. Alphabetical Recent Up a category Information on the disease from the ARC, an organization which advocates for people with mental retardation. Toddler Protocol: Phenylketonuria Outline of suggestions for doctors working with the families of PKU patients provides good ideas and resources, including a self-management timeline, games, and a cookbook. Children's PKU Network The non-profit organization sends out free packets of information to families of newly diagnosed children, offers scales for purchase, and provides links to food and formula suppliers. Dietary Information Booklets on the phenylalanine content of manufactured foods and baby foods, from the UK-based National Society for Phenlketonuria

77. Discovery Health :: Diseases & Conditions :: 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/encyclopedias/illnesses.html?article=1692&page=1

78. Health News & Article - Phenylketonuria Health Articles news about phenylketonuria and Clinical Trials Genetics Home Reference phenylketonuria news from National Library of Medicine http://www.sl100.net/topic/topic/phenylketonuria/

Health News Home 100s of Save Life Articles Phenylketonuria Read about Phenylketonuria from PubMed Find Medical Dictionary Meaning of Phenylketonuria. Health Education Health education or patient education is important aspect of disease management program. Even some programs, especially some chronic disease management can go further and introduced self-management for some aspect of illness. Good example is management of arthritis. There are a variety of models for both formal and informal self-management. However, the core concepts involve engagement in self-care, improved self-monitoring, interactions with healthcare professionals and coping with disease. Self-management programs are mostly provided to people with chronic diseases like arthritis, diabetes, and some skin diseases. Patient education and self-management programs are aim to improve the efficiency and quality of the healthcare process and overall improve quality of life. It is not really about reduction in doctor visits or clinic attendances. Even sometime, an improved healthcare process can include more frequent use of services because of improved compliance. In this website, you can find resources for articles about common health topics and news. New findings in the field are included some articles. Topics are categories in the alphabetical order and you can use Health Article Search Box to search the topic you want.

79. BBlue Diaper Syndrome And Phenylketonuria Maisa Haddad phenylketonuria is an autosomal recessive gene also, so it would show up the Blue diaper syndrome and phenylketonuria are both inborn errors of amino http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/M Haddad.

Blue Diaper Syndrome and Phenylketonuria Maisa Haddad Introduction Blue diaper syndrome is an inborn error of amino acid metabolism. The amino acid tryptophan is malabsorped in the intestinal lining of newborn infants. The syndrome is known to be an autosomal recessive trait. It is believed that a mutation in the tryptophan transport protein causes a baby's diaper to turn blue once the urine touches the diaper. This was caused by the bacteria that acted on urine precursor's to produce a compound that turned indigo blue upon contact with air.Unfortenutely there was limited information on blue diaper syndrome , but there were other disorders that were caused by inborn error's of amino acid metabolism. One of interest and that was not limited on information was the phenylketonuria (PKU) disorder. This was also caused by inborn error's of amino acid metabolism. It is caused by the deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH).The amino acid phenylalanine is malabsorped because there is low concentration's of the PAH enzyme. Since there are low concentration of this enzyme , the amino acid is not being absorbed like it normally should. Therefore, there is an accumulation of the phenylalanine in the serum, which causes mental retardation in newborns. Examples and Experiments The difference with PKU is that there is lots of information on the disorder and actual experiments that have been done. An example is the RFLP hapotype analysis of the PAH locus in a German PKU family . A novel MspI site in one of the mutant alles was observed. The site was caused by a T to C transition in exon 9 of the gene and resulted in the substitution of leucine by proline at residue 311 of the protein (Konecki 2882). Mutagenesis and expression analyses have verified that the amino acid subsitution caused the lack of accumulation of the corresponding protein and the neucleotide substitution must represent a novel mutation in the PAH gene that causes PKU(konecki 2883). DNA sequencing of a fragment of the normal and mutant human PAH showed the T to C transition within the exon 9 gene.

80. Phenylketonuria (PKU) Facts phenylketonuria (PKU) is a genetic disorder that causes the amino acid If you have a family history of phenylketonuria, talk with your health http://aihc1998.tripod.com/pku.html

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod Murderball Share This Page Report Abuse Edit your Site ... Next Phenylketonuria (PKU) Facts Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood. This results in severe and irreversible mental retardation, especially in infants, if not treated early. There is little information available on the incidence of PKU. In the United States, research reports: PKU occurs in 1 out of every 13,500 to 19,000 births. A higher incidence in whites and Native Americans A lower incidence in blacks, Hispanics, and Asians. Cause and Incidence In PKU, the child lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). PAH is necessary to convert phenylalanine into another amino acid, tyrosine. If phenylalanine is not converted, it builds up in the bloodstream and disturbs the metabolism, resulting in mental retardation. Phenylalanine is a component of protein, so when protein is consumed, phenylalanine builds up in those people with PKU. At birth, babies with PKU have no signs or symptoms of the disorder because the mother's body filters out phenylalanine for her unborn baby before birth. Symptoms appear after the baby starts consuming protein (from either breast milk or formula), and the resulting phenylalanine builds up in his or her system, usually by a few months of age. If PKU is not treated, it usually causes progressively severe mental retardation and other problems affecting the nervous system. The baby will not be able to regain the lost mental ability.

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