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Phenylketonuria:     more books (92)

Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976 A guide for the family of the child with phenylketonuria: The Ross metabolic formula system by Phyllis B Acosta, 1994 PKU phenylketonuria: A guide to dietary management by Richard Koch, 1981 Overcoming a Bad Gene: The story of the discovery and successful treatment of Phenylketonuria by Seymour Kaufman, 2004-01-01 The resource mothers program for maternal phenylketonuria by Paula Shaw St. James, 1999 ^1H NMR-based metabonomics for the diagnosis of inborn errors of metabolism in urine [An article from: Analytica Chimica Acta] by M.A. Constantinou, E. Papakonstantinou, et all 2005-06-29 Gene and Environment: An entry from Macmillan Reference USA's <i>Macmillan Reference USA Science Library: Genetics</i> by William K. Scott, 2003 Amino Acid Disorders Screening: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Tish, A.M. Davidson, 2006 DISEASE: METABOLIC DISEASES: An entry from Charles Scribner's Sons' <i>Encyclopedia of Food and Culture</i> by Lewis A. Barness, 2003 Counsel Patients to Follow Strict PKU Diet for Life.(Brief Article): An article from: Family Practice News by Mary Ann Moon, 2000-12-01 New technology may expand newborn screening: the committee is recommending routine screening of 29 of the 78 conditions that they analyzed.(Clinical Rounds): An article from: Pediatric News by Mark S. Lesney, 2005-04-01 Application of nuclear magnetic resonance spectroscopy combined with principal component analysis in detecting inborn errors of metabolism using blood ... [An article from: Analytica Chimica Acta] by M. Constantinou, E. Papakonstantinou, et all 2004-05-31 Restricted Diet Essential for Maternal PKU Patients.: An article from: Family Practice News by Maureen Donohue, 2000-02-15 How Darwinian reductionism refutes genetic determinism [An article from: Studies in History and Philosophy of Biol & Biomed Sci] by P.M. Rosoff, A. Rosenberg,

lists with details

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
    
    Extractions: 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? 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

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
    
    Extractions: 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

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/

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

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
    
    Extractions: 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.

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
    
    Extractions: (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.

91. MedWebPlus Subject Diseases And Conditions Brain Diseases
    http://medwebplus.com/subject/Diseases_and_Conditions/Brain_Diseases/Phenylketon
    
    Extractions: 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/
    
    Extractions: 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. 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 When: Sunday 27th October 2002 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/
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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

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