41. E.S.PKU Homepage The European Society for phenylketonuria and Allied Disorders is looking for stories about issues that PKU societies in different countries are dealing with at http://www.espku.org/

New member The republic Moldova may be a new member of the ESPKU. More about this Click here for the current list of members. What's your news? The European Society for Phenylketonuria and Allied Disorders is looking for stories about issues that PKU societies in different countries are dealing with at this moment. Maybe your PKU organisation is doing something special with or for PKU's? Or perhaps PKU-families in your country are struggling with taxes. We want to know all individual stories so we can publish the best. So do not hesitate and share your PKU-knowledge with others!! Let us know what PKU-related events are hot in your country or area. Personal stories are also welcome. Send your messages to info@espku.org Exchange stories with other PKU's Anybody can communicate easily with other PKU's via the ESPKU-website. Since April 2003 the website has a forum because we noticed that people would like to react on each other online. In the forum registered users can post messages on specific subjects of specific people. If you want to read more about how this works

42. Phenylketonuria (PKU) Newborn Genetic Testing Home Newborn Genetic Screening Full Medical Reports phenylketonuria (PKU) phenylketonuria (PKU). PKU is caused http://gslc.genetics.utah.edu/units/newborn/infosheets/PKU.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Phenylketonuria (PKU) Phenylketonuria (PKU) PKU is caused by the lack of an enzyme that processes the amino acid phenylalanine. Phenylalanine is present in all protein foods such as meat, eggs and milk. Smaller amounts are also found in cereals, vegetables and fruits. In PKU, phenylalanine is not broken down and accumulates in the blood. Phenylalanine is toxic to the brain. Untreated individuals with PKU show progressive developmental delay in the first year of life, mental retardation, seizures, autistic-like behavior and a peculiar body odor. Genetics In PKU individuals, the phenylalanine hydroxylase gene on chromosome 12 is disrupted. This gene encodes the protein that processes the amino acid phenylalanine to reduce its level in the body. When the gene is mutated, phenylalanine builds up in the body. Inheritance Autosomal recessive. Incidence 1 in 10,000 - 25,000. Incidence in the United States is 1 in 16,000 live births. Diagnosis without genetic screening PKU is rarely diagnosed before 6 months of age. After this, mental retardation is apparent.

43. Www.ddhealthinfo.org - Medical Care Information and Cause. phenylketonuria (PKU) is a metabolic disorder inherited as an autosomal recessive trait....... phenylketonuria Background. back to top. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5166

44. Phenylketonuria - Information / Diagnosis / Treatment / Prevention home rare disorders phenylketonuria phenylketonuria. Information Genes and Diseases phenylketonuria Brief genetic information. ? Medline http://www.healthcyclopedia.com/rare-disorders/phenylketonuria.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... rare disorders > phenylketonuria Phenylketonuria Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News Web Directory: Related Topics: Genetic Disorders Neurological Disorders/Brain Diseases Nutrition and Metabolism Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "phenylketonuria" Health News: Search millions of published articles for news on Phenylketonuria Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Children's PKU Network Organisation offering education and direct assistance. Includes details of projects, plus links to food suppliers. Genes and Diseases: Phenylketonuria Brief genetic information.

45. 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 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.

46. Phenylketonuria MAIN SEARCH INDEX. phenylketonuria. 1st ed. New York Pantheon Books, 2001. Schuett, Virginia E. Low Protein Cookery For phenylketonuria. http://www.ehendrick.org/healthy/001053.htm

MAIN SEARCH INDEX Phenylketonuria Definition Description Causes and symptoms Diagnosis ... Resources Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation , is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue. PKU is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism." PKU is incurable, but early, effective treatment can prevent the development of serious mental incapacity. Description PKU is a disease caused by the liver's inability to produce a particular type of PAH enzyme. This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body. A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain. Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and causes irreversible abnormalities in brain structure and function in PKU patients. Phenylalanine is a type of teratogen. Teratogens are any substance or organism that can cause birth defects in a developing fetus.

47. Bbc.co.uk - Health - Conditions A-Z Phenylketonuria AZ Illnesses and Conditions. phenylketonuria By Dr Trisha Macnair. phenylketonuria(PKU) is an inherited enzyme deficiency. The enzyme http://www.bbc.co.uk/health/conditions/phenylketonuria.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 3rd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions Phenylketonuria By Dr Trisha Macnair Phenylketonuria(PKU) is an inherited enzyme deficiency. 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. Harmful effects of PKU can be avoided by starting a special low-phenylalanine diet as soon as possible after birth. As phenylalanine is found in many proteins, protein rich foods such as meat must be avoided and 'safe' proteins (usually specially formulated substitutes) taken instead. This diet should be followed long-term - the brain is only damaged while still growing and developing but there is some debate about what age it is safe to stop the diet at. It is important that women with PKU follow the diet while pregnant, or they risk exposing their unborn child to high levels of the amino acid (this can lead to miscarriage, birth defects and brain damage in the child even if they haven't inherited PKU themselves).

48. Phenylketonuria - Health And Medical Information: Diseases And Conditions, Medic phenylketonuria Main Index. Terms Related to phenylketonuria phenylketonuria; PKU. phenylketonuria Related Medications. (No articles currently available), http://www.medicinenet.com/Phenylketonuria/article.htm

MedicineNet Home > Phenylketonuria Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend ... Email to a Friend Last Editorial Review: 12/31/1997 document.write(''); Sponsored Links Find Medical Journals at Medscape Medscape offers 100+ top-tier, full text medical journals for free. Register now. www.medscape.com Medical Journals for Less Get low prices on reference books and medical journals. Find dictionaries, drug guides, terms, atlases, Pdrs and supply books. Compare prices at dozens of stores with one click. www.allbookstores.com Medications MedTerms Medical Dictionary Home Help ... Phenylketonuria Index Allergies Alzheimer's Arthritis Asthma Blood Pressure Cancer Cholesterol Chronic Pain Crohn's Disease Depression Diabetes Dictionary Digestion Eyesight First Aid Healthy Kids Healthy Living Heart Hepatitis C HIV Liver Lung Cond. Medications Menopause Men's Health Migraine Osteoporosis Rheum. Arthritis Senior Health Skin Sleep Thyroid Urology Weight Mgmt. Women's Health 650+ More Topics Meet the Doctors Site Map Content Solutions How do I start on Atkins? ... Complete Listing RSS Enabled Syndicate our content Learn more June 2, 2004

49. Phenylketonuria - The Genetics An overview of the gentical aspects of phenylketonuria inheritance, mutations, diagnosis and biochemical defects, Roberts, Roberts, mobile, disco, UK http://www.willroberts.com/pku/

Phenylketonuria, abbreviated to PKU, is a disease caused by a common inherited disorder in the way our body processes proteins. The problem lies in an enzyme which converts phenylalanine, an amino acid into another amino acid, tyrosine. The consequence of this is that phenylalanine builds up in the body to high levels. This is a state called hyperphenylalaninaemia, it can be caused by diseases other than PKU. Hyperphenylalaninaemia can damage brain tissue. In the past, before PKU was understood, children with PKU were often placed in institutional care as a result of their severe mental retardation and frequent convulsions. The good news is that if diagnosed early the effects of this disorder can be greatly reduced by removing phenylalanine from the diet of newborn babies. This has lead to the introduction of extensive screening programs in the UK and other countries, and the number of people suffering the effects of PKU has greatly decreased. There is also evidence that hyperphenylalaninaemia in pregnant mothers with PKU may cause 'maternal phenylketonuria' which results in symptoms in the child similar to those in PKU irrespective of the child's PKU status. To find out more about PKU please choose from the selection below.

50. ORPHANET® : Phenylketonuria, Atypic ORPHANET. Orphanet database access. phenylketonuria, atypic. Direct access to data ORPHANET. Orphanet database access. phenylketonuria. Direct access to data http://www.orpha.net/static/GB/phenylketonuria.html

Orphanet database access Phenylketonuria, atypic Direct access to data Update : 01/06/2004 Orphanet database access Orphanet database access Phenylketonuria Direct access to data Summary Clinical signs Autosomal recessive inheritance Metabolism of aminoacids abnormal Mental retardation(degree not assessed) Congenital cardiac anomaly Update : 01/06/2004 Orphanet database access

51. Phenylketonuria: Screening And Management. GUIDELINE TITLE. phenylketonuria screening and management. Equal access to treatment for all individuals with phenylketonuria is highly desirable. http://www.guideline.gov/summary/summary.aspx?doc_id=2716

52. Maternal Phenylketonuria. GUIDELINE TITLE. Maternal phenylketonuria. BIBLIOGRAPHIC SOURCE(S). American Academy of Pediatrics, Section on Genetics. Maternal phenylketonuria. http://www.guideline.gov/summary/summary.aspx?doc_id=2777&nbr=2003

53. Phenylketonuria: The Basics Of PKU On The Net talking to medical professionals. Hopefully, you will leave with with a clearer understanding of phenylketonuria, or PKU. This is the http://www.fesoc.com/pku/

What is Phenylketonuria (PKU)? Text only versions of most pages have been added. These new pages are perfect for printing. You can find links to them at the bottom of the existing pages. PKU is a birth defect caused by a recessive gene found in both parents. It involves a lack of a specific enzyme needed to break down the protein known as phenylalanine. Excess levels of this protein are found in PKU patients, and when untreated, can lead to brain damage. Fortunately, it is fully treatable by a special diet, and can be detected in patients by a simple blood test. These pages have been designed and put together for a school project, with the purpose help further the viewers knowledge of PKU. The information expressed within is a collection of information from other pages (accessible through LINKS ), brought together here to make it easier to understand and faster to browse through. Please understand that a complete picture of PKU cannot be shown here alone, and must be built by looking at many sites, and talking to medical professionals. Hopefully, you will leave with with a clearer understanding of Phenylketonuria, or PKU. This is the starting page from which you can choose your path in learning. Simply choose where you wish to go on the toolbar to the left. Where you are will always be highlighted.

54. Disease Directory : Rare Disorders : Phenylketonuria AllRefer Health phenylketonuria (PKU) - phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk http://www.diseasedirectory.net/Rare_Disorders/Phenylketonuria/default.aspx

Wednesday, June 02, 2004 Rare Disorders Agnosia Aicardi Syndrome Alstrom Syndrome ... Rare Disorders : Phenylketonuria AllRefer Health - Phenylketonuria (PKU) - Phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups Children's PKU Network - Organisation offering education and direct assistance. Includes details of projects, plus links to food suppliers. Definition of phenylketonuria - WordReference.com Dictionary - phenomenon phenothiazine phenotype phenoxide phenoxy resin phenyl phenylalanine phenylamine phenylbutazone phenylketonuria phenytoin pheromone phew phi phial eMedicine - Phenylketonuria : Article by Djordjije Karadaglic, MD ... - Phenylketonuria - Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylketonuria. Last Updated: July 21, 2003, 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 acid Genes and Diseases: Phenylketonuria - Brief genetic information.

55. Dr. Nathan Pregnancy Glossary Of Terms Dr. Nathan Pregnancy Glossary of Terms Search for a Term. phenylketonuria. A phenylalanine. Individuals with phenylketonuria (PKU) lack an enzyme, phenylalanine hydroxylase. http://www.babyzone.com/drnathan/P/Phenylketonuria.htm

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56. Phenylketonuria (PKU) phenylketonuria (PKU). phenylketonuria (PKU) is an inherited disorder caused by the absence of a substance (enzyme) the body needs http://www.meritcare.com/hwdb/_followLink.asp?sgml_id=stp1354

57. Phenylketonuria - Genetics Home Reference Genetic disorder catalog. phenylketonuria. What is phenylketonuria? How common is phenylketonuria? PKU is found in about 1 in 10,000 Caucasian (white) newborns. http://ghr.nlm.nih.gov/condition=phenylketonuria

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Phenylketonuria Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Phenylketonuria What is phenylketonuria? Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the blood. If PKU is not treated, excess phenylalanine can cause mental retardation and other serious health problems. Phenylketonuria is a subtype of hyperphenylalaninemia The symptoms of this disorder vary from mild to very severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent mental retardation and behavioral problems. Seizures, delayed development, and movement disorders are also common. Many children have a musty or "mouse-like" odor as a side effect of too much phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members, because phenylalanine is important for skin pigmentation. Children with the disorder are also likely to have skin disorders such as eczema.

58. Phenylketonuria Management phenylketonuria Background phenylketonuria (PKU) is among the most common metabolic 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.

59. Phenylketonuria - Medical Dictionary Definitions Of Popular Medical Terms phenylketonuria The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or nearcomplete deficiency of the http://www.medterms.com/script/main/art.asp?articlekey=4869

60. 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/

Search the PAH db Site: 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 Information about PAH mutations 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.

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