81. Phenylketonuria (PKU) General Overview Site Directory phenylketonuria (PKU) General Overview Page. Q. What is phenylketonuria or PKU? A. PKU is an enzymatic disorder that http://www.doh.wa.gov/EHSPHL/PHL/Newborn/pkugo.htm

You are here: DOH Home EHSPHL Home PHL Home NBS Home »PKU General Overview Page Search Employees Site Directory: Phenylketonuria (PKU) General Overview Page Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What should I know about 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? How does the body normally process phenylalanine? What happens to phenylalanine in a child with PKU? What are the effects of having PKU? ... What is the treatment for PKU? Q. What is phenylketonuria or PKU? A. PKU is an enzymatic disorder that affects the way the body processes protein. Children with PKU cannot process a part of the protein, the amino acid called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes damage to the developing brain. Q. How does the body normally process phenylalanine?

82. OnTheWeb.com: Phenylketonuria Only $17.95! Web Search Results phenylketonuria (page 1). $159.95. Related Product Matches phenylketonuria Books (»») shop.ontheweb.com. http://www.ontheweb.com/s/phenylketonuria.html

Home Search Results Web Categories: Auto Business Travel Computers ... eCommerce Pop Searches: Collectibles Gifts Apparel Jewelry ... Mortgages Featured Links: Important Information Shop @ Amazon.com: phenylketonuria Free Downloads Of 5000 Screensavers Finding Phenylketonuria Is A Click Away At 2020search.Com ... You Can Find Phenylketonuria Right Now At Info.Com. Search Again: Tetrahydrobiop Seymour Kaufman Only Carbohydrate and Glycoprotein Metabo... R. Angus Harkness Only Web Search Results: phenylketonuria (page 1) Related Keywords: Diet Genetics Health Infants ... Prevention Books: Phenylketonuria - A Medical Dictionary, Books: Advances In Phenylketonuria Research Books: Carbohydrate And Glycoprotein Metabolism Add Your Site Related Product Matches - Phenylketonuria Books shop.ontheweb.com Important Information If you or someone you know has Phenylketonuria (PKU) Click Here. www.tylenol.com Shop @ Amazon.com: phenylketonuria Shop for phenylketonuria www.amazon.com Free Downloads Of 5000 Screensavers Free Downloads of 5000 Screensavers c.qckjmp.com Finding Phenylketonuria Is A Click Away At 2020search.Com

83. Phenylketonuria phenylketonuria (PKU). Disease type Genetic Disorder Chromosome 12 Pathology. PKU is a disease very similar to Alkapotnuria in http://www.diseasedir.org.uk/genetic/gene1202.htm

Phenylketonuria (PKU) Disease type: Genetic Disorder Chromosome : Pathology PKU is a disease very similar to Alkapotnuria in that an enzyme is non-functional, in the same metabolic pathway. But there the similarity ends. Wheras Alkapotnuria is not life threatening, PKU is. PKU is defined by a mutation in the enzyme Phenylalanine hydrolase Which performs the first step in the diagram on the right. Without this enzyme Phenylananine will build up in the blood stream. Various other metabolic routes will produce phenylketones, and other derivatives. Phenylalanine is non-polar, and so is not easily excreted in the urine, one of the minor derivatives of phenylalanine - phenylpyruvic acid - is toxic to the cells of the Cental Nervous System (CNS). Aetiology PKU is a recessive mutation, and both genes need to be of the PKU type before the disease will manifest itself. The disease does not show itself until the individual has left the womb. Before this, the mothers enzymes will break down the Phenylalanine, as soon as the child leaves the womb however it's own enzymes are incapable of taking over the job, and the child's levels of Phenylalanine will begin to build up. Symptoms Without treatment PKU usually results in severe mental retardation, a slow growth rate, and early death. Treatment for the condition involves the use of a special diet which is lacking in Phenylalanine.

84. Phenylketonuria And Mode Of Inheritance Offers key phenylketonuria and mode of inheritance links and resources. Click here to find phenylketonuria and mode of inheritance. http://101investor.com/z/retirement-planning/phenylketonuria-and-mode-of-inherit

phenylketonuria and mode of inheritance This topic is: phenylketonuria and mode of inheritance Estate planning, retirement planning, estate taxes and phenylketonuria and mode of inheritance . Make sure to do your planning for your retirement years early. Thanks for visiting our retirement planning and estate planning directory. Here are resources for phenylketonuria and mode of inheritance BIOLOGY LAB 345 ... the most likely mode of inheritance (autosomal vs sex-linked and dominant vs ... the inherited disorder phenylketonuria . Include its mode of inheritance , chromsome locaton, phenotypic ... http://unx1.shsu.edu/~bio_aad/problem%20set%201%20S03.htm Unit 5 Objectives ... Chromosome Theory of Inheritance , be able ... mode of inheritance , major characteristics, and treatments for the following genetic disorders: Cystic Fibrosis, Tay-Sachs, Phenylketonuria http://www.cat.cc.md.us/~kdalton/Bio110/objectives/Ut5.html Untitled Document ... left frame is an index of the disorders by mode of inheritance and below is an alphabetical list ... the "elephant man."

85. Phenylketonuria phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino acid http://www.healthwell.com/healthnotes/healthnotes.cfm?ContentID=1247002

86. Phenylketonuria Message Board An education and support network for people and families with phenylketonuria (PKU). http://pku.raredisease.org/

Congenital Adrenal Hyperplasia Phenylketonuria Congenital Adrenal Hyperplasia Phenylketonuria

87. Phenylketonuria --  Britannica Student Encyclopedia phenylketonuria Britannica Student Encyclopedia. To cite this page MLA style phenylketonuria. Britannica Student Encyclopedia. 2004. http://www.britannica.com/ebi/article?eu=337409&query=tyrosine&ct=ebi

88. Phenylketonuria (PKU) NiemannPick Disease. phenylketonuria (PKU). Prader-Willi Syndrome. Urea Cycle Defects. phenylketonuria (PKU). This area will soon contain updated information. http://www.vanhosp.bc.ca/html/wellness_amdc_findout_pku.html

Home Adult Metabolic Diseases Find Out About a Specific Disease Adreno-leukodystrophy ... Niemann-Pick Disease Phenylketonuria (PKU) Prader-Willi Syndrome Urea Cycle Defects Phenylketonuria (PKU) This area will soon contain updated information. Please see resources section for other sites of interest. About VHHSC Reaching Out Patient Info Health Professionals ... Employment Info

89. Health: Conditions_and_Diseases: Metabolic_Disorders: Phenylketonuria - Open Sit the entire directory. Top Health Conditions and Diseases Metabolic Disorders phenylketonuria (2) phenylketonuria. http://open-site.org/Health/Conditions_and_Diseases/Metabolic_Disorders/Phenylke

Open Site The Open Encyclopedia Project home submit content become an editor the entire directory only in Metabolic_Disorders/Phenylketonuria Top Health Conditions and Diseases Metabolic Disorders : Phenylketonuria Phenylketonuria Phenylketonuria involves the body's inability to degrade the amino acid phenylalanine (Phe). This can lead to mental retardation and behavioral disorders in children. Diet restriction is oftentimes prescribed for this problem. Disease Etiology The inability to degrade phenylalanine (Phe) can arise from various enzyme deficiencies. The most common enzyme disorder involves phenylalanine hydroxylase (PAH). PAH converts Phe to tyrosine (Tyr) and is the first enzyme in the Phe degradative pathway. Other defective enzymes may include dihydrobiopterin synthetase and dihydrobiopterin reductase. These are involved in the metabolism of biopterin, an essential cofactor for PAH. This category needs an editor - apply here Open Site Code 0.5.3 JVDS.com Visit our sister sites dmoz.org mozilla.org chefmoz.org musicmoz.org ... edit

90. Newborn Screening - Phenylketonuria Newborn Screening. phenylketonuria (PKU) (Updated 04/30/04). phenylketonuria (PKU) is an autosomal recessive genetic disorder caused http://www.health.state.mo.us/Lab/NewbornScreenPKU.htm

Your browser does not support script What's New Missouri Department of State Public Health Laboratory P.0. Box 570 307 West McCarty Jefferson City, Missouri 65102 Newborn Screening Phenylketonuria (PKU) (Updated 04/30/04) Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by a defect in a specific protein – an enzyme called phenylalanine hydroxylase (PAH), which converts phenylalanine into another an amino acid called tyrosine. This conversion is a chemical reaction, which takes place in a normal individual. In a child with PKU there is no chemical reaction to convert phenylalanine to tyrosine. This results in a build up of an excessive amount of phenylalanine and toxic metabolites in all parts of the body, including the brain, blood, and urine. These excesses create a chemical imbalance that results in various degrees of mental retardation. If a baby with PKU is found early and treatment started, mental retardation can be prevented. PKU is treated with a special formula and a low protein diet. PREVALENCE: ANALYTES MEASURED: Phenylalanine (Quantitative) REPORTING RESULTS: Normal: The final newborn screening reports are mailed to the submitter and physician of record.

91. MedWebPlus Subject Diseases And Conditions Brain Diseases http://medwebplus.com/subject/Diseases_and_Conditions/Brain_Diseases/Phenylketon

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Diseases and Conditions Brain Diseases Phenylketonuria Broader Terms: All Diseases Hereditary Diseases Mental Retardation Metabolic Diseases ... Metabolism, Inborn Errors Related Terms: Angelman Syndrome Fragile X Syndrome Hepatolenticular Degeneration Tuberous Sclerosis ... Prader-Willi Syndrome Web Sites: Entry GO European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) GO GeneClinics: Medical Genetics Knowledge Base Phenylalanine Hydroxylase Deficiency [PAH Deficiency. Includes: Hyperphenylalaninemia (HPA), Phenylketonuria (PKU)]; Authors: Shannon R Ryan; Charles R Scriver. Last update: 24 November 1999 GO March of Dimes Birth Defects Foundation PKU (phenylketonuria) GO Montreal Children's Hospital. Hyperphenylalaninemia (PKU) Resource Booklet for Families GO National Center for Biotechnology Information Genes and disease: Phenylketonuria GO National Library of Medicine. Phenylketonuria (PKU): Screening and Management : January 1980 through July 2000, plus selected earlier citations: 3394 citations / prepared by Karen Patrias, Felix F. de la Cruz. 2000 September (Current bibliographies in medicine ; 2000-4)

92. Home THE PKU (phenylketonuria) ASSOCIATION OF NSW INC. ABN 7481 0895 701. http://www.pkunsw.org.au/

THE PKU (Phenylketonuria) ASSOCIATION OF NSW INC. ABN 7481 0895 701 Welcome to the website for the PKU Association of NSW. We are based in and around Sydney, NSW Australia but our members are in all states of Australia. This website is intended to help link us to you wherever you are in Australia. We will try to provide you with news and events as they occur that relate to people with PKU. May 1st is PKU Awareness Day, check NEWS page for details of activities and how you can help. Our Mission Statement To promote awareness of PKU: by providing information and support to families affected by PKU; by actively re-establishing contact with adults who have PKU and do not attend the Adult Metabolic Clinic; by lobbying Government bodies where appropriate Our next Support Meeting When: Sunday 27th October 2002 Time: 10.30am for an 11.00am start. Where: Staff Child Care Centre, Westmead Hospital Enter from Redbank Road Northmead, follow the road to the first boom gate and press the button to call security, tell them you are going to the PKU meeting at the Staff Childcare Centre and they will open the gate for you. It is just up on your right and you can park out the front of the building. Bring a plate of food to share for lunch. Tea and coffee will be provided.

93. »»Phenylketonuria Reviews«« phenylketonuria Reviews. Related Subjects PelvicInflammatory-Disease More Pages phenylketonuria Page 1 2. Search for a Health Issue Book. http://www.health-issue-books.com/Pelvic-Inflammatory-Disease/Phenylketonuria/

Phenylketonuria Reviews Related Subjects: Pelvic-Inflammatory-Disease More Pages: Phenylketonuria Page 1 Book reviews for "Phenylketonuria" sorted by average review score: Low Protein Cookery for Phenylketonuria Published in Paperback by University of Wisconsin Press (August, 1997) Author: Virginia E. Schuett Amazon base price: List price: that's off! Used price: Buy one from zShops for: Average review score: Kidney Disease This book is one of the best helps in the world for those who are going to follow the "very low protein diet" for kidney disease to delay dialysis. The renal dietitians at JHU use this as their Bible in developing diet plans for Dr. Walser's patients. There are a number of helpful suggestions at the start of the book to teach you how to read labels and weigh foods. There are also lists that help you find low protein foods which are updated on the PKU web site. The restrictions on protein for the "very low protein" diet for kidney disease are not as severe as those for PKU, but this book teaches you how to meet those limitations. Just keep in mind that it is not a great place to find vegetarian recipes. People with PKU cannot tolerate protein and take a special supplement to provide it. Therefore these recipes will not provide the protein that your average vegetarian will be looking for.

94. NEJM -- Tetrahydrobiopterin As An Alternative Treatment For Mild Phenylketonuria Original Article from The New England Journal of Medicine Tetrahydrobiopterin as an Alternative Treatment for Mild phenylketonuria. http://content.nejm.org/cgi/content/abstract/347/26/2122

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 347:2122-2132 December 26, 2002 Number 26 Next Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria Full Text PDF PDA Full Text Perspective ... Chapters at Harrison's ABSTRACT Background Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency, and at least half the affected patients have mild clinical phenotypes. Treatment with a low-phenylalanine diet represents a substantial psychosocial burden, but alternative treatments have not been effective. Methods To explore the therapeutic efficacy of tetrahydrobiopterin, loading test and analyzed the in vivo rates of [ C]phenylalanine oxidation in 38 children with phenylalanine hydroxylase deficiency (age range, 1 day to 17 years). We assessed whether responsiveness to tetrahydrobiopterin was associated with specific genotypes, and we mapped mutations using a structural model of the phenylalanine hydroxylase monomer.

95. Phenylketonuria (PKU) - Preliminary Draft What is phenylketonuria, and how is it treated? phenylketonuria, better known as PKU, is defined as an inborn error of metabolism. http://srv2.lycoming.edu/~newman/courses/bio22298/disorderpapers/Pku/preliminary

What is Phenylketonuria, and how is it treated? Phenylketonuria, better known as PKU, is defined as an inborn error of metabolism. PKU is an inability to breakdown phenylalanine (an essential amino acid) to tyrosine. An essential amino acid is a building block for body proteins that can only be obtained from food, the body can not produce them. The symptoms are caused by a defect in the enzyme phenylalanine hydroxylase . Without this enzyme phenylalanine accumulates in the blood and body tissues. High level of phylalanine in the blood will result in excretion of phenylketones in the urine, hence the name phenylketonuria comes from this. PKU is an autosomal/recessive inherited metabolic disorder. A person must receive 2 genes for PKU inorder to show symptoms of the disease. PKU is also an example of a genetic disease were heredity is based on the genotype of the mother, this is called the maternal effect. Classical PKU is inherited in a strictly autosomal recessive matter, and is a result of mutations in the structural gene for phenylalanine hydroxylase. Most variation in classical PKU is due to heterogeneity in the mutant alleles with many patients being compound heterozygotes rather than homozygotes for one particular mutant allele. The phenylalanine hydroxylase locus is found on chromosome 12. The symptoms of PKU include skin rashes, microcephaly, tremors, spasticity, unusual hand posturing, seizures, hyperactivity, delayed mental and social skills, mental retardation, “mousy” odor in sweat and urine, light coloration (fair complexion, blond hair, blue eyes).

96. Pku http://www.wolfenet.com/~kronmal

97. Www.aap.org/policy/re0024.html http://www.aap.org/policy/re0024.html

var refUrl = document.URL window.location = "http://www.aap.org/_test/003.cfm?myURL=" + refUrl

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-97 of 97    Back | 1  | 2  | 3  | 4  | 5