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Phenylketonuria:     more books (92)

Phenylketonuria - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Report of the NIH Consensus Development Conference on Phenylketonuria (PKU) (SuDoc HE 20.3352:P 52) by U.S. Dept of Health and Human Services, 2001 Phenylketonuria: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Marshall, MA Letcher, 2006 Phenylketonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Marshall, MA Letcher, 2005 Mental and neuromuscular symptoms in tryptophan deficiency: Pellagra, carcinoidosis, phenylketonuria, Hartnup disease and disturbances of tryptophan metabolism ... psychiatrica Scandinavica.Supplementum) by Jörgen Lehmann, 1972 Gale Encyclopedia of Medicine: Phenylketonuria by Marshall G. Letcher MA, 2002-01-01 Inborn Errors of Metabolism: Phenylketonuria, Sly Syndrome, Myoadenylate Deaminase Deficiency, Glycogen Storage Disease Type V Low Protein Cookery for Phenylketonuria 21st Century Ultimate Medical Guide to Phenylketonuria (PKU) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-05 Autosomal recessive disorders: Tay-Sachs disease, Phenylketonuria, Cystic fibrosis, Canavan disease, Wilson's disease, Lafora disease International Symposium on Phenylketonuria and Allied Disorders Tel-Aviv 1969 Genetic, Epidemiological and Clinical Studies of Phenylketonuria (Oligophrenia Phenylpyrouvica Folling) in Norway by Letten Fegersten Saugstad, 1975 Phenylketonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Marshall, MA Letcher, Rosalyn, MD Carson-DeWitt, 2006 Low Protein Cookery for Phenylketonuria 3rd Edition. by Virginia E. Schuett, 1997-01-01

lists with details

21. NIH Consensus Statements 113. Phenylketonuria Screening And
    113. phenylketonuria Screening and Management phenylketonuria Screening and Management. NIH Consensus Statement 2000 October 1618; 17(3)  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

23. MedlinePlus Phenylketonuria
    phenylketonuria  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

24. PKU
    phenylketonuria (PKU) is a hereditary disease that is caused by the lack of a The gene defect for phenylketonuria is an autosomal recessive genetic  
    http://www.savebabies.org/diseasedescriptions/pku.htm

25. Texas Department Of Health-Phenylketonuria
    phenylketonuria  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

26. PKU (phenylketonuria)
    National phenylketonuria Foundation 6301 Tejas Drive Pasadena, History of phenylketonuria screening in the US, Louisiana State University,  
    http://www.kumc.edu/gec/support/pku.html
    
    Extractions: Phenylketonuria (PKU) PKU News National organizations with information on genetic conditions or birth defects Wellness Interactive Network , search for PKU PKU of Florida National Health Information Center (NHIC) search for PKU NSPKU PKU Listserv: magol@gte.net History of phenylketonuria screening in the U.S. , Louisiana State University, School of Law, Biotechnology Law Division You and PKU booklet by Margaret Taylor and Virginia Schuett (Waisman Center on Mental Retardation and Human Development) (1978), University of Wisconsin Press

27. Home Page
    The National Society for phenylketonuria. Click on the link below to go to the new website. www.nspku.org. If you have come to this page from another site,  
    http://web.ukonline.co.uk/nspku/
    
    Extractions: The National Society for Phenylketonuria Click on the link below to go to the new website. www.nspku.org If you have come to this page from another site, please either contact the webmaster of that site or contact the NSPKU webmaster with details of which website you have come from. Please update your favorites to link to the new website.

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

29. Phenylketonuria - Your Genes, Your Health - DNA Learning Center - Cold Spring Ha
    Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders Fragile X syndrome, Marfan syndrome, Hemophilia,  
    http://www.ygyh.org/pku/description.html
    
    Extractions: Fragile X Syndrome Normally, PAH is produced in the liver where it helps convert an amino acid, phenylalanine, into another amino acid called tyrosine. Amino acids are individual components of proteins. They arrive in the liver after the intestine absorbs them from the food we eat. To make the conversion, PAH grabs an oxygen (O) atom and transfers it to the ring at the bottom of a phenylalanine. Afterward, a nearby hydrogen ion (H+) automatically sticks to the oxygen, completing the transformation to tyrosine. Tyrosine and any remaining phenylalanine move from the liver into the bloodstream and circulate through the body to cells in the brain and every other organ. These cells incorporate the amino acids into the proteins they make. In people with PKU, a mutation in the PAH gene changes the shape of the PAH enzyme. The mutation can occur in any one of the thousands of DNA bases inside the gene. Different mutations have different effects on the enzyme. Some mutations change the shape of the enzyme so that it no longer recognizes phenylalanine anymore. Some mutations change the shape so that the enzyme works very slowly. Other mutations change the shape so that the enzyme is unstable and degrades. Whatever the underlying mutation, the end result is that PAH never converts phenylalanine to tyrosine. If a person with PKU keeps adding phenylalanine to his body by eating protein-laden foods, like meat, cheese, and even cake, excess phenylalanine builds up in the brain and poisons the neurons. No one is sure why extra phenylalanine causes mental retardation, but one idea is it somehow slows the development of neurons inside the cerebral cortex, the part of the brain that senses the outside world and makes decisions. If the phenylalanine level is not reduced, people with PKU will have undersized neurons that fail to make enough connections with other neurons. Another idea is that the retardation is caused by the lower levels of dopamine found in people with untreated PKU. Dopamine is a chemical that transmits messages from one neuron to another. With less dopamine, the brain can't transmit messages as well, like when it tells us to move an arm, or plans future events, like finishing a term paper before its due date. Other changes may also contribute. Deeper in the brain, underneath the cerebral cortex, people with untreated PKU have less white matter. The white matter forms a sheath around long neurons and speeds the transmission of their messages. Other changes may also contribute. Deeper in the brain, underneath the cerebral cortex, people with untreated PKU have less white matter. The white matter forms a sheath around long neurons and speeds the transmission of their messages. Finally, the brain's ability to produce its own proteins is reduced, possibly contributing to the retardation of an untreated person with PKU. Ultimately, however, no one really knows why an excess of phenylalanine is toxic to the brain. Most babies in the United States and many other countries are screened soon after birth for high levels of phenylalanine in their blood. In the initial step, the doctor pricks the heel or hand of the newborn and collects a few drops of blood on a piece of filter paper (a.k.a. Guthrie cards). A cut-out from the bloodspot is placed on a plate of bacteria that can't grow without phenylalanine. When the baby has a normal level of phenylalanine, there is not enough phenylalanine to support bacterial growth, and nothing happens. When the baby has higher levels, the phenylalanine feeds the bacteria around the blood spot. The bigger the halo of bacteria around the disk is, the more phenylalanine is present. Upon a second positive result, further blood and urine tests will determine whether the high phenylalanine level is due to a defect in the PAH enzyme, or a defect in a co-factor (BH4) that helps the PAH enzyme work. Only 2% of people with elevated phenylalanine levels have a BH4 deficiency, which is caused by a defect in one of four different enzymes. PKU is not a contagious disease, but an inherited disorder. Inheritance of PKU starts with the parents. Each parent has two PAH (phenylalanine hydroxylase) genes, one on each chromosome 12. One of their genes is mutated (as represented by the red chromosome). When each parent produces sperm or eggs, only one of their two PAH genes goes into each cell. About half the cells will contain the mutated PAH. The union of a sperm and egg that both contain a mutated PAH gene produces a child with two mutated genes. This child has PKU. A genetic disorder like PKU is called a recessive disorder, because a person must have two mutated genes to develop symptoms. People who only have one mutated gene do not display any symptoms of the disorder and they are called "carriers." When both parents carry a mutation in the PAH gene, every child they have has a 1 in 4 chance of inheriting PKU. To see why, we first represent the parental genes with letters: big P represents the normal gene, and little p represents the mutated gene. Then we set up a Punnett square by arranging each parent's genes on the outer edges of the square. Each parent donates only one of their two PAH genes to the child, so we place one of the father's genes and one of the mother's genes into each box. Each completed box shows a potential combination (or genotype) in the child, and the entire square contains all possible combinations. Next, we count the boxes that contain a PKU-causing genotype (the pp combo). 1 out of 4 boxes contain this combo, so the chance of this couple's child developing PKU is also 1 out of 4, or 25%.The most important thing to remember about these odds is that they apply to every child this couple has. It may be useful to think of the Punnett square as a roulette wheel. Each child is a separate "spin of the wheel," so each child has a 25% chance of developing PKU. In this family, one in four children has PKU. Other couples with the mutation may have two, three, four, or even no children with the disorder. A man or woman with PKU has greater odds of passing on PKU, if the partner also carries a mutated PAH gene. In the Punnett square below, the man has PKU (pp), but the results are the same if the woman had PKU instead. There are two boxes with the pp genotype, so every child of this couple has a 50% chance of inheriting PKU. If the partner does not carry a mutated PAH gene (she is PP), there is no chance any of the children will inherit PKU. A woman with PKU (pp) can also give her child a PKU-like condition during pregnancy, but this has nothing to do with what genes the child has. The fetus will feel the effect of her mother’s phenylalanine level if it is high even when the child has a normal PAH gene (the Pp genotype). Once born, the child may have cognitive delays, heart disease, and/or a smaller than usual brain. Phenylketonuria (PKU) is a recessive disorder. That is, a person gets PKU only when he or she inherits two copies of the mutated gene, one from each parent. PKU appears in about 1 in 10,000 births in Caucasians and East Asians. Some ethnic groups have higher rates (e.g., Turks — 1 in 2,600; Irish — 1 in 4,500), and some have lower rates (e.g., Japanese — 1 in 143,000). The disorder is exceedingly rare in Africans. Newborn babies are screened for high levels of phenylalanine in their blood. Other blood tests must be conducted to determine if the high level is due to PKU or to a defect in another protein — BH4 — that causes the same symptoms. PKU occurs when a person inherits a genetic mutation that disrupts the function of a crucial metabolic enzyme (PAH). Without a good PAH enzyme, a person can accumulate dangerously high phenylalanine levels in the brain. Excess phenylalanine poisons neurons and causes mental retardation and epilepsy if the condition is not treated. Children with PKU must adhere to a low-protein diet as soon as the disorder is diagnosed, and should stay on the diet for as long as possible. Even after 12, relaxation of the diet can change a person's behavior. Experts recommend people "diet for life." Soothing New Parents Dr. Selma Snyderman discusses parents’ initial reactions and what they can do to ensure that their children are following the special diet. Initial Diet Dr. Selma Snyderman explains the purpose of the special diet and its initial components. Doctor’s Visits At the beginning, visits to the doctor are frequent. Dr. Selma Snyderman comments on the purpose of these visits. Formulas and Solid Foods Dr. Selma Snyderman discusses the introduction of low phenylalanine formulas and regular food into the diet. Stopping the Diet Dr. Selma Snyderman comments on the possibility of stopping the diet. Returning to Diet Dr. Selma Snyderman discusses what happens if a person leaves the diet and the advantages of returning to the diet. PKU and Pregnancy Women with PKU must take additional steps to help ensure a healthy baby. Dr. Snyderman discusses the reasons behind the careful monitoring. Untreated People Dr. Selma snyderman and Pat Ryan stress the importance of the diet and what will happen if it is not followed. Aspartame High in phenylalanine, aspartame (i.e. Nutrasweet) is prevalent in diet sodas and children’s medications. Dr. Snyderman advises avoidance. Future Treatments Dr. Selma Snyderman discusses the pros and cons of possible future treatments, including gene therapy, partial liver transplant, and the use of stem cells. Advice to Paretns Erin Buckley, a college student with PKU, discusses the difficulty of the PKU diet and how parents should respond. More Advice This advice for new parents comes from Pat Ryan, a father of two 28-year-old sons with PKU. Avoiding Certain Foods Erin Buckley discusses how she felt about her limited diet as a child and how other parents and friends reacted to her avoidance of certain foods. First Memories of PKU Erin Buckley recalls her earliest memories of PKU – the recognition of the Nutrasweet symbol in the supermarket. Parental Guidance Erin Buckley and Dr. Selma Snyderman – the first doctor in the US to treat kids with PKU – advise parents on how to successfully teach their child to stay on the diet. Doctor Visits Erin Buckley discusses the frequency of her visits to the doctor and her blood tests. Formulas The formulas are yucky, but Pat Ryan and Erin Buckley describe how to deal with them. Cheating Erin Buckley describes what happens when she does not ake her formula, and Pat Ryan discusses the cheating temptations his sons have had to repress. Diets and Special Foods Erin Buckley and Pat Ryan discuss limited items in the diet and special foods that can fill up the stomach. Limitations Travelling with loads of formula can be a pain, but there aren’t many things a person with PKU is completely barred from. Erin Buckley names two – the military and reality TV shows. Special Expenses Dr. Selma Snyderman discusses the financial difficulties that people with PKU have despite the current laws, and Erin Buckley describes her own financial situation. School Experiences Success in school is possible. Erin Buckley discusses her junior and high school experiences. Friends and dating Pat Ryan describes his son’s social lives and the minor difficulties of dating. /pre> Alzheimer Disease

30. 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 newborn screening to  
    http://www.pkunetwork.org/
    
    Extractions: 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.

31. 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  
    http://www.emedicine.com/PED/topic1787.htm
    
    Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease 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

32. EMedicine - Phenylketonuria : Article By Zeljko P Mijuskovic, MD
    phenylketonuria phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Deficiency of the enzyme phenylalanine hydroxylase (PAH)  
    http://www.emedicine.com/derm/topic712.htm
    
    Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: February 28, 2005 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: Zeljko P Mijuskovic, MD , Consulting Staff, Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia and Montenegro Coauthor(s): Djordjije Karadaglic, MD, DSc , Professor, School of Medicine, University of Podgorica, Podgorica, Serbia and Montenegro; Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Professor, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Serbia and Montenegro; Zeljko P Mijuskovic, MD

33. UniProt Knowledgebase Keyword: Phenylketonuria
    Protein which, if defective, causes phenylketonuria, an autosomal libs={swiss_prot}keywords phenylketonuria libs-keywords phenylketonuria.  
    http://www.expasy.org/cgi-bin/get-entries?KW=Phenylketonuria

34. NSPKU Home
    What is the National Society for phenylketonuria (NSPKU)? The NSPKU exists to help and support people with PKU, their families and carers.  
    http://www.nspku.org/
    
    Extractions: [ Home ] News What is PKU What is the NSPKU Publications ... Donate 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. Please note that we are now sending out News and Views with the new CAF managed membership list. If you are a member but don't get a copy please contact our administrator Lucy Welch on 0845 603 9136 or email info@nspku.org to check that you have been correctly transferred to the new list. The electronic copy of News and Views is available on the publications page. Introduction - what is PKU News Dietary information booklets The Management of PKU booklet ... News and Views - our quarterly magazine - Issue 111 now available Events - Here is a list of forthcoming events 2005 Conference photos and presentations How to join the NSPKU - download membership forms and gift aid forms Contact us The NSPKU exists to help and support people with PKU , their families and carers. It was formed in 1973, see

35. Phenylketonuria - MayoClinic.com
    phenylketonuria is a rare genetic disorder that causes mental retardation and other serious problems. Early treatment with a special diet can prevent  
    http://www.mayoclinic.com/invoke.cfm?id=DS00514

36. PAH : Phenylalanine Hydroxylase Locus Knowledgebase Web Site
    Some cause phenylketonuria, others cause nonPKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant  
    http://www.pahdb.mcgill.ca/
    
    Extractions: Welcome to the PAH db World Wide Web site This site is run with the following aim: To provide users with access to up-to-date information about mutations at the phenylalanine hydroxylase locus. Here you will have access to the content of the database in the form of electronic reports. The database is updated manually off-line by the curators to assure that no erroneous information is appended. The curators now also accept data electronically via the submission form. For a better synopsis of the site's function, please read the PAHdb Knowledgebase Abstract Mutations in the phenylalanine hydroxylase ( PAH ) gene, the majority of which result in deficient enzyme activity and cause hyperphenylalaninemia, occur in all 13 exons of the gene and flanking sequence. Some cause phenylketonuria, others cause non-PKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant chromosomes. Some PAH alleles are present at elevated frequencies; 5 account for approximately 60% of European mutations and they tend to cluster in regions or are on only one of a few haplotypes. Several hundred mutations as well as three-fold greater mutation associations have been recorded. The majority of changes are missense mutations, although splice, nonsense and silent mutations, as well as single base-pair frameshifts, and larger deletions and insertions have been found.

37. Phenylketonuria - Wikipedia, The Free Encyclopedia
    phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15000 births, Retrieved from http//en.wikipedia.org/wiki/phenylketonuria  
    http://en.wikipedia.org/wiki/Phenylketonuria
    
    Extractions: Over US$225,000 has been donated so far! Other charities also need your help. Phenylketonuria (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 edit Phenylketonuria was discovered by the Norwegian physician Ivar Asbj¸rn F¸lling , in , when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation. In Norway this disorder is known as F¸lling's disease , named after its discoverer. Dr. F¸lling was one of the first physicians to apply detailed chemical analysis to the study of disease. His careful analysis of the urine of two retarded siblings led him to request many physicians near Oslo to test the urine of other retarded patients. This led to the discovery of the same substance that he had found in eight other patients. The substance found had to be subjected to much more basic and rudimentary chemical analysis than is available today. He tested and found that reactions gave rise to benzaldehyde and benzoic acid , which led him to conclude the compound contained a benzene ring. Further testing showed the

38. Phenylketonuria - Vitacost
    phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino  
    http://www.vitacost.com/science/hn/Concern/Phenylketonuria.htm

39. Genome.gov | ONLINE Education Kit - 1961
    Children’s Hospital, developed a way to test whether newborn babies have phenylketonuria (PKU), an inability to digest the amino acid phenylalanine.  
    http://www.genome.gov/Pages/Education/Kit/main.cfm?pageid=38

40. ► Phenylketonuria
    A medical encycopedia article on the topic phenylketonuria.  
    http://www.umm.edu/ency/article/001166.htm
    
    Extractions: Causes, incidence, and risk factors: 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.

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