61. Phenylketonuria phenylketonuria (PKU) a genetic disease, inherited as a recessive, brought aboutby the absence of the enzyme responsible for the conversion of the amino acid http://www.webref.org/anthropology/p/phenylketonuria.htm

phenylketonuria Free T-Mobile Long Distance phenylketonuria (PKU): a genetic disease, inherited as a recessive, brought about by the absence of the enzyme responsible for the conversion of the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in the blood and then breaks down into by-products that cause severe mental retardation in addition to other symptoms. Source: Anthromorphemics Questia - The Online Library Back Next p Paleo ... phenetic system of classification phenylketonuria phenylthiocarbamide phoneme phonology phosphate unit ... Tabularium™ WebRef™ Search WWW Search webref.org Digital River: Get amazing deals on great software! Iverson Software Co., 506 Genesis Ave., Marshall MN 56258-3110 Email WebMaster PRIVACY POLICY This site hosted by EASY CGI Web Hosting

62. Phenylketonuria phenylketonuria. Click Here. A B C D E F G H I J K L M N O P QR S T U V W X Y Z Books Credits. A genetic disorder that, through http://www.webref.org/psychology/p/phenylketonuria.htm

phenylketonuria $50 Cash Back on Cell Phones A genetic disorder that, through a deficiency in a liver enzyme, phenylalanine hydroxylase, causes severe mental retardation unless phenylalanine can be largely restricted from the diet until the age of six. Abbreviated to PKU. Questia - The Online Library Back Next pain disorder panic attacks ... phenylcyclidine phenylketonuria phobia phobic reaction phonological disorder photopic vision ... Tabularium™ WebRef™ Search WWW Search webref.org Digital River: Get amazing deals on great software! Iverson Software Co., 506 Genesis Ave., Marshall MN 56258-3110 Email WebMaster PRIVACY POLICY This site hosted by EASY CGI Web Hosting

63. Phenylketonuria Management phenylketonuria Background phenylketonuria (PKU) is among the most commonmetabolic disorders; it is inherited as an autosomal recessive trait. http://www.meadjohnson.com/metabolics/phenylketonuria.html

Phenylketonuria: Background Rebecca S. Wappner, M.D. Director, Metabolism Clinic Team Riley Hospital for Children Indianapolis, IN Phenylketonuria (PKU) is among the most common metabolic disorders; it is inherited as an autosomal recessive trait. PKU occurs in approximately 1 in 12,000 births and, although panethnic, is most common among persons of white Western European background. Phenylketonuria results from deficient activity of the enzyme phenylalanine hydroxylase ( PAH ), which normally converts the amino acid phenylalanine ( phe ) to the amino acid tyrosine ( tyr ). Untreated PKU patients have elevated body fluid levels of phe and phe metabolites (i.e. phenylacetic acid and phenylpyruvic acid), which are also known as phenylketones— hence the name for the disorder. Elevated levels of phenylalanine appear to interfere with brain growth and nerve myelination, resulting in psychomotor handicaps, increased reflexes and motor tone, seizures, autistic-like behaviors, phobias and other psychological problems, and a distinctive "dysmyelination" on magnetic resonance imaging. A distinctive "mousy" body odor results from increased levels of phenylacetic acid, and eczematoid rashes may also occur.

64. Genesis Health System - Detailed Disease Info - Phenylketonuria phenylketonuria. phenylketonuria (PKU) is a rare, inherited, metabolic disorderthat can result in mental retardation and other neurological problems. http://www.genesishealth.com/micromedex/detaileddisease/00060590.aspx

Facility Information DeWitt Comm Hosp Genesis Medical Ctr Illini Hospital Genesis Health Grp VNA Phenylketonuria Definition Phenylketonuria (PKU) is a rare, inherited, metabolic disorder that can result in mental retardation and other neurological problems. People with this disease have difficulty breaking down and using (metabolizing) the amino acid phenylalanine. PKU is sometimes called Folling's disease in honor of Dr. Asbjorn Folling who first described it in 1934. Description Phenylalanine is an essential amino acid. These substances are called "essential" because the body must get them from food to build the proteins that make up its tissues and keep them working. Therefore, phenylalanine is required for normal development. Phenylalanine is a common amino acid and is found in all natural foods. However, natural foods contain more phenylalanine than required for normal development. This level is too high for patients with PKU, making a special low-phenylalanine diet a requirement. The incidence of PKU is approximately one in every 15,000 births (1/15,000). There are areas in the world where the incidence is much higher, particularly Ireland and western Scotland. In Ireland the incidence of PKU is 1/4,500 births. This is the highest incidence in the world and supports a theory that the genetic defect is very old and of Celtic origin. Countries with very little immigration from Ireland or western Scotland tend to have low rates of PKU. In Finland, the incidence is less than 1/100,000 births. Caucasians in the United States have a PKU incidence of 1/8,000, whereas Blacks have an incidence of 1/50,000.

65. Phenylketonuria (PKU, Classical PKU) phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulationof the amino acid phenylalanine and reduced levels of the amino acid L http://www.hollandandbarrett.com/Concern/Phenylketonuria.htm

Phenylketonuria Also indexed as: Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid phenylalanine and reduced levels of the amino acid L-tyrosine in the blood. If untreated, high levels of phenylalanine can cause severe mental retardation, behavioural disturbances, and other neurological problems. Eczema sensitivity to sunlight Fortunately, newborn screening programmes now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions. Gene therapy is currently being researched as a possible cure. Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes and amino acids. Conventional treatment options: Conventional treatment consists of strict adherence to a diet low in phenylalanine , in order to prevent a buildup of phenylalanine in the body, and supplementing with the amino acid tyrosine Lifestyle changes that may be helpful: Dietary changes that may be helpful: PKU can be controlled by a diet low in phenylalanine The greatest benefits are achieved when the diet is started in the first few days of life

66. Nebraska Newborn Screening Program: Phenylketonuria (PKU) phenylketonuria (PKU). What is it? phenylketonuria (FEEnil-KEE-tone-u-ree-ah)or PKU is an inherited disease. It is caused by http://www.hhs.state.ne.us/nsp/Newborn4.htm

Phenylketonuria (PKU) What is it? Phenylketonuria (FEE-nil-KEE-tone-u-ree-ah) or PKU is an inherited disease. It is caused by the build up of the amino acid Phenylalanine (FEE-nil-AL-an-een), or phe. Normally the body can get rid of extra phe, but those with PKU cannot. Phenylalanine is one of the building blocks of protein. It is found in protein foods like milk, meats, eggs, and cheese. After eating these foods, the phe levels in a person with PKU may get too high. The effects of high levels of phe include nerve and brain cell damage which may result in mental retardation. This damage can be greatly reduced by placing the child on a special diet within the first few days of life. My child had an abnormal test. What do I do now? An abnormal test does not necessarily mean your child has PKU. But the only way to make sure is to have what is called a "confirmatory test." This test is more specific than the first test and can give your doctor more information. The first thing to do is to get your child retested as soon as possible. If your child does have PKU, damage can be prevented if it is found and treatment started within the first few days of life. So the most important thing to do is to get your child retested quickly. My doctor said the test was drawn too early. What does that mean?

67. InteliHealth: Phenylketonuria referenced in an AZ format. phenylketonuria (PKU). Health A to Z, Reviewedby the Faculty of Harvard Medical School phenylketonuria (PKU) http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9615.html

Entire Site Diseases Conditions Healthy Lifestyle InteliTools Your Health IH Catalog Dental chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_shop_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_shop-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Phenylketonuria (PKU) What Is It?

68. Glossary 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 phenylketonuria (PKU) disorderthat is present when an infant does not have an enzyme necessary for the http://www.lamaze.com/tools/glossary/0,9472,176132,00.html

var cimsCid = '170440'; var cimsUid = ''; main COMMUNITY Message Boards Chats ... Community Challenges find on iVillage on astrology on babies on beauty on books on food on health on lamaze.com on money on parenting on pets on relationships on women.com on work MAGAZINES on Cosmopolitan on Country Living on Good Housekeeping on House Beautiful on Marie Claire on Redbook on Victoria you are here: iVillage lamaze tools glossary RECOMMENDED Trust Your Body Your Labor Guide Comfort Measures Sex During Pregnancy ... First Hour of Life WHAT'S NEW Birth Stories Newborn-Knowledge Quiz Baby How-To Videos iVILLAGE TOPICS Trying to conceive Infertility Adoption Pregnancy ... Pregnancy and babies A-Z FEATURES Quizzes Videos Experts Glossary ... About Lamaze International FREE NEWSLETTERS ParentsPlace Women's Health more newsletters A B C ... Z phenylketonuria (PKU) disorder that is present when an infant does not have an enzyme necessary for the metabolism of essential proteins; a blood test is performed on infants in all 50 states to test for the disorder shortly after birth P patterned-paced breathing pediatrician perinatal perineum ... pudendal block sponsors Send this page to a friend Friend's Email: Your Email: CHANNELS MAGAZINE SITES COMMUNITY SERVICES ABOUT iVILLAGE iVILLAGE MARKET astrology babies beauty books ... lamaze.com

69. Phenylketonuria - Wikipedia phenylketonuria. See also http//www.ehendrick.org/healthy/00060590.htmlhttp//www.ultranet.com/~jkimball/BiologyPages/P/phenylketonuria.html, http://www.wikipedia.org/wiki/Phenylketonuria

Main Page Recent changes Edit this page Older versions Special pages Set my user preferences My watchlist Recently updated pages Upload image files Image list Registered users Site statistics Random article Orphaned articles Orphaned images Popular articles Most wanted articles Short articles Long articles Newly created articles Interlanguage links All pages by title Blocked IP addresses Maintenance page External book sources Printable version Talk Log in Help Phenylketonuria From Wikipedia, the free encyclopedia. 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 PKU is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. 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

70. ORPHANET® : Phenylketonuria ORPHANET. ORPHANET database access. phenylketonuria. Direct access todetails Alias Phenylalanine hydroxylase total deficiency. Home Page. http://www.orpha.net/static/GB/phenylketonuria.html

ORPHANET database access Phenylketonuria Direct access to details Alias : Home Page

71. Phenylketonuria (PKU) And HPA Links to information and resources for phenylketonuria (PKU) and hyperphenylalaninemia(HPA). phenylketonuria (PKU) and HPA Guide picks. http://rarediseases.about.com/cs/phenylketonuria/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Phenylketonuria (PKU) and HPA Guide picks A hereditary disorder of metabolism of phenylalanine. A related condition is hyperphenylalaninemia (HPA). The Arc - PKU Question and Answer Comprehensive answers to common questions about PKU. GeneClinics - Phenylalanine Hydroxylase Deficiency Scientific information on phenylketonuria (PKU) and hyperphenylalaninemia (HPA). March of Dimes - PKU Fact Sheet Comprehensive information on the disorder. The Montreal Children's Hospital's Resource Booklet for Families Comprehensive information on phenylketonuria (PKU) and hyperphenylalaninemia (HPA). National PKU News Information, support, dietary information, stories, and links. Links to translation available. NCBI Genes and Disease - Phenylketonuria Scientific information from the National Institutes of Health about the disorder, links to science databases.

72. Spears & MacLeod: Medical Links: Phenylketonuria: Pharmasave :Yarmouth, Nova Sco PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated,causes mental retardation.PKU is a disease that affects the way the body http://www.spearsmacleod.com/links/p/phenylke/

PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation.PKU is a disease that affects the way the body processes food. Children with PKU cannot process a part of protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.(1) MediLinks... Phenylketonuria www.spearsmacleod.com MediLinks Return Submenu Return Major Menu Return Top Page Organizations: Reviewed sites. Link Description Type Phenylketonuria - PKU Overview edu Hyperphenylalaninemia (PKU) Resource Booklet for Families The Montreal Children's Hospital ca National PKU News News and Information about Phenylketonuria org Phenylketonuria com The list of sites below .... has not been reviewed If you feel any of these sites should be moved up to our permanent list ( or removed) or if you have any site to suggest please contact Add- A -Link. Please be sure to tell us which category and send us a complete URL or item # below. Thank you These pages are selected randomly from the net and will be occasionally updated.

73. Phenylketonuria Tips for printing. phenylketonuria PKU phenylketonuria PKU Special ResourcesSOS Ask experts or consultants for information phenylketonuria. http://ibis-birthdefects.org/start/pkufact.htm

Tips for printing Phenylketonuria - PKU About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Phenylketonuria PKU Special Resources Phenylketonuria A Selection of Internet Sites [*] Outstanding [P] For Professionals [Chinese] [German] [Spanish] [S] Support Group [*][P] Phenylketonuria Online Mendelian Inheritance in Man (OMIM). PKU, Phenylalanine Hydroxylase Deficiency, Pah Deficiency, Oligophrenia Phenylpyruvica, Folling Disease, Phenylalanine Hydroxylase, PKU1, Hyperphenylalaninemia, Hpa, Phenylalaninemia. [S] Low-Protein Foods [S] Loprofin-Low Protein Products All Loprofin products are suitable for a gluten-free, milk-free, lactose-free, and egg-free diet. Phlexy-10 System A new, interchangeable system of protein supplements. National PKU Newsletter What is PKU? PKU (phenylketonuria), in its "classic" form, 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. (Not all elevations of blood phenylalanine require treatment; any 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.) [P] The Discovery of PKU by Dr. Asbjørn Følling: Norway, 1934

74. Phenylketonuria phenylketonuria. Definition phenylketonuria (PKU) is a rare hereditary conditionin which the amino acid phenylalanine is not properly metabolized. http://www.pennhealth.com/ency/article/001166.htm

Disease Injury Nutrition Poison ... Prevention 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, 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. Damage to the brain causes marked mental retardation by the end of the first year of life if the offending proteins are not scrupulously avoided. Older children may develop movement disorders ( athetosis ), rocking and

75. Medic-Planet Phenylketonuria phenylketonuria See also Genetic diseases, Back to the Index pagephenylketonuria phenylketonuria (PKU) (FENil-keed-uh-NYOOR-ee http://www.medic-planet.com/MP_article/internal_reference/Phenylketonuria

76. PBS - Who Cares: Chronic Illness In America -- Becky Shively Becky Shively Niagara Falls, NY I am a Mom of a PKU (phenylketonuria)child. He was born looking perfectly normal on the outside. http://www.pbs.org/fredfriendly/whocares/your_stories/becky_shively.html

Becky Shively Niagara Falls, NY I am a Mom of a PKU (phenylketonuria) child. He was born looking perfectly normal on the outside. I received a call when he was 10 days old that there was a problem and I knew he had PKU. He has a half-sibling from his father's previous marriage with the disorder. The hospital was amazed. They had never heard before of half-siblings having PKU, since both parents have to be carries. What was even more amazing was that my friend of 20 years had a girl four years earlier with severe PKU. I used to say for an extremly rare disease I sure had enough kids with it running around my house. The blood tests that need to be done are the easy part. The kids get used to it and don't usually put up much of a fight. The everyday heartache comes when feeding your child could damage them mentally. With PKU a certain enzyme that digests a specfic part of protein is missing causing it to toxify the brain. Researchers are unsure how a liver defect can cause brain damage, but with PKU it does. The diet is made mostly of fruits and vegetables. Specially made pasta, breads and now cheeses! There is a special formula they need to consume everyday. It is a very time consuming endever. I am constantly boiling pasta or mixing up baked goods. The foods are terribly expensive and hard to get. Insurance pays for my son's diet, but others are not so lucky. Parents know without this food the diet is impossible to maintain a good blood level. It is for those other parents, my girlfriend included, that I started a support group. To find other parents and to unite to help our children "get the basics" namely food.

77. Health Ency.: Disease: Phenylketonuria phenylketonuria See images. PKU. Definition phenylketonuria is a rare hereditarycondition in which the amino acid phenylalanine is not properly metabolized. http://www.austin360.com/shared/health/adam/ency/article/001166.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease P Phenylketonuria See images Overview Symptoms Treatment ... Prevention Alternative names: PKU Definition: Phenylketonuria is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. This can cause severe mental retardation Causes and Risks Phenylketonuria (PKU) is inherited as an autosomal recessive trait. Because PKU can be easily detected by a simple blood test and it is a treatable disease, most states require a screening test for all newborns. 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 develop. These compounds are toxic to the central nervous system and cause brain damage. Damage to the brain causes marked mental retardation by the end of the first year of life. Older children may develop movement disorders (

78. Phenylketonuria Swiki Help Guide phenylketonuria. phenylketonuria Fall Semester 2001,Seth Lilavivat, Greg Forlenza, Heather Yi. Contents PKU Introduction http://pbl.cc.gatech.edu/mindy/711

Phenylketonuria [Phenylketonuria] Fall Semester 2001 Seth Lilavivat, Greg Forlenza, Heather Yi Contents PKU: Introduction PKU: A Historical Perspective PKU Etiology: Signs, Symptoms, and Risk Factors PKU: Physiological Dysfunction ... PKU: References Very nice looking and thorough.. Outstanding reference list. The font is a little difficult to read, however.99 Link to this Page Fall 2001 HPS/BIOL 3751 Projects last edited on 4 December 2002 at 11:02:07 am by r60h141.res.gatech.edu

79. Phenylketonuria (PKU) - Preliminary Draft What is phenylketonuria, and how is it treated? phenylketonuria, betterknown 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).

80. Screening: Phenylketonuria Screening. phenylketonuria. US Preventive Services Task Force 1996.Recommendation. Screening for phenylketonuria (PKU) by measurment http://www.ahcpr.gov/clinic/uspstf/uspsspku.htm

Screening Phenylketonuria U.S. Preventive Services Task Force Recommendation Screening for phenylketonuria (PKU) by measurment 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 screeening for maternal PKU, but recommendations against such screening may be made on other grounds. Guide to Clinical Preventive Services, 2nd Edition Screening for Phenylketonuria, 1996 Return to Quick Menu: Topic Index U.S. Preventive Services Task Force (USPSTF)

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 4     61-80 of 99    Back | 1  | 2  | 3  | 4  | 5  | Next 20