41. The Arc's Q & A On PKU phenylketonuria (PKU). What is PKU? PKU, which stands for phenylketonuria, is an inherited metabolic disease (also called an inborn error of metabolism) http://www.thearc.org/faqs/pku.html

Phenylketonuria (PKU) What is PKU? PKU, which stands for Phenylketonuria, is an inherited metabolic disease (also called an inborn error of metabolism) that leads to mental retardation and other developmental disabilities if untreated in infancy. With an inborn error of metabolism, the body is unable to produce proteins or enzymes needed to convert certain toxic chemicals into nontoxic products, or to transport substances from one place to another (Glanze, 1996). The body's inability to carry out these vital internal functions may result in neurological damage. In the case of PKU, the amino acid called phenylalanine accumulates. As phenylalanine builds up in the bloodstream, it causes brain damage. Infants with untreated PKU appear to develop typically for the first few months of life, but by twelve months of age most babies will have a significant developmental delay and will be diagnosed with mental retardation before school entry. How is PKU inherited? PKU is inherited as a single-gene disorder. Single-gene disorders are caused by a mutant or abnormal gene. They can be inherited in one of three patterns: autosomal dominant, autosomal recessive and X-linked. PKU is an autosomal recessive disorder. Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. In a recessive condition, an individual must have two defective genes in order to have the disorder. Individuals with only one copy of a defective gene are called "carriers," show no symptoms of having the disease, and usually remain unaware of their status until they have an affected child. In order for a child to inherit PKU, both parents must be PKU carriers. When this occurs, there is a one in four chance of their producing an affected child with each pregnancy. Boys and girls are equally at risk of inheriting this disorder.

42. Phenylketonuria ( PKU ) - DrGreene.com Read an article that explains a serious lifelong disease that can be diagnosed at birth and treated to prevent brain damage. http://www.drgreene.com/21_1156.html

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43. Screening: Phenylketonuria phenylketonuria. US Preventive Services Task Force 1996. Recommendation. Screening for phenylketonuria (PKU) by measurment of phenylalanine level on a http://www.ahrq.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 PDF File , 32 KB) Return to Quick Menu: Topic Index Return to USPSTF Home Page

44. Issues In Newborn Screening For Phenylketonuria - October 1, 1999 - American Aca The blood sample for phenylketonuria (PKU) screening should be obtained at least phenylketonuria (PKU) is caused by an autosomal recessive defect in the http://www.aafp.org/afp/991001ap/1462.html

Advanced Search AAFP Home Page Journals Vol. 60/No. 5 (October 1, 1999) Issues in Newborn Screening for Phenylketonuria RICHARD K. KOCH, M.D. University of Southern California School of Medicine, Los Angeles, California The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test should be performed. Treatment to prevent sequelae from this disorder is best carried out in cooperation with an experienced PKU center. Dietary care is expensive, and financial assistance may be necessary for many families. A phenylalanine-restricted diet should be started as soon as possible. Occasionally, cases of PKU are missed by newborn screening. Thus, a repeat PKU test should be performed in an infant who exhibits slow development. (Am Fam Physician 1999;60:1462-6.) P henylketonuria (PKU) is caused by an autosomal recessive defect in the enzyme phenylalanine hydroxylase, which is required for converting phenylalanine to tyrosine. (Five percent of natural protein is composed of phenylalanine.) The mutation that causes PKU is located on chromosome 12. The specific type of mutation varies, resulting in variable severity in the clinical course of the disorder.

45. Introduction: Phenylketonuria - WrongDiagnosis.com Introduction to phenylketonuria as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/p/phenylketonuria/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Phenylketonuria Next sections Basic Summary for Phenylketonuria Prevalence and Incidence of Phenylketonuria Types of Phenylketonuria Symptoms of Phenylketonuria ... Diagnostic Tests for Phenylketonuria Next chapters: Sickle Cell Anemia Thalassemia Tay Sachs Albinism ... Feedback Introduction: Phenylketonuria Phenylketonuria: Rare genetic disease Researching symptoms of Phenylketonuria: Further information about the symptoms of Phenylketonuria is available including a list of symptoms of Phenylketonuria , other diseases that might have similar symptoms in differential diagnosis of Phenylketonuria , or alternatively return to research other symptoms in the symptom center Misdiagnosis and Phenylketonuria: Research more detailed information about misdiagnosis of Phenylketonuria failure to diagnose Phenylketonuria , or research misdiagnosis of other diseases Treatments for Phenylketonuria: Various information is available about treatments available for Phenylketonuria , or research treatments for other diseases.

46. [Clinical Preventive Services] Screening For Phenylketonuria Screening for phenylketonuria (PKU) by measurement of phenylalanine level on a Newborn screening for phenylketonuria thirty years of progress. http://cpmcnet.columbia.edu/texts/gcps/gcps0054.html

Guide to Clinical Preventive Services, Second Edition Congenital Disorders Screening for Phenylketonuria RECOMMENDATION Screening for phenylketonuria (PKU) by measurement 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 screening for maternal PKU, but recommendations against such screening may be made on other grounds. Burden of Suffering Accuracy of Screening Tests Blood phenylalanine determination by the Guthrie test has been the principal screening test for PKU for three decades.7 Although well-designed evaluations of the sensitivity and specificity of the Guthrie test have never been performed,8 sensitivity estimates9,10 and international experience with its use in millions of newborns suggest that false-negative results are rare. Fluorometric assays, which can detect differences in blood phenylalanine levels as low as 0.1 mg/dL, are alternative forms of testing that also offer excellent sensitivity.8 Most missed cases of PKU do not appear to be due to false-negative results of the screening tests, but to submission of an inadequate sample, clerical error involving the sample, or failure to follow up positive results.9 Standards for adequate blood collection on filter paper for neonatal screening programs have been published.10a

47. Phenylketonuria Screening for phenylketonuria. Full Text The Entire Review .htm (stay on CTFPHC site and browse the review) .pdf (go to Health Canada Site to download http://www.ctfphc.org/Sections/section02ch017.htm

Please select the format in which you want to view this review: Screening for Phenylketonuria Full Text - The Entire Review .htm (stay on CTFPHC site and browse the review) .pdf (go to Health Canada Site to download Adobe document) Structured Abstract ... Recommendations (Table only) Selected References Back to Pediatric Preventive Care CTFPHC Home Page Canadian Task Force on Preventive Health Care For any technical issues please contact: webmaster@ctfphc.org Last modified: June 10, 1998.

48. CTF Full Text Review: Phenylketonuria phenylketonuria is an inborn error of phenylalanine metabolism that occurs in 1 Feldman W. Screening for phenylketonuria. In Canadian Task Force on the http://www.ctfphc.org/Full_Text/Ch17full.htm

Canadian Task Force on Preventive Health Care Full Text Review Please note: In 2003, the CTF updated its Grades of Recommendations to include an "I Recommendation" for situations where insufficient evidence exists to allow a recommendation to be made. (Formerly, these situations were captured under a "C Recommendation".) This change is not retroactive, and all "C Recommendations" made prior to 2003 have not been reevaluated in light of the new "I" recommendation grade. For a discussion of these recommendation grades, please link to the 2003 article in the Canadian Medical Association Journal here Screening for Phenylketonuria Adapted by William Feldman, MD, FRCPC, Department of Pediatrics, University of Toronto, from the report prepared for the US Preventive Services Task Force by Robert Baldwin, MD and Modena E.H. Wilson, MD, MPH These recommendations were finalized by the Task Force in October 1993 Contents Overview Burden of Suffering Efficacy of Screening Tests Recommendations of Others ... Acknowledgements Overview There is good evidence for universal newborn screening and treatment for phenylketonuria (PKU). (A Recommendation) Since such programs have been implemented, mental handicap due to PKU has virtually disappeared. Screening for PKU 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 between 2-7 days of age. There is insufficient evidence to recommend for or against prenatal screening for maternal PKU. (C Recommendation)

49. Dr. Koop - Phenylketonuria Dr. Koop phenylketonuria testRoutine testing includes phenylketonuria and blood type. Many hospitals include other tests such as thyroid function, hemoglobin S (sickle cell disease), http://www.drkoop.com/ency/93/001166.html

Home Health Reference Phenylketonuria Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Phenylketonuria Injury Disease 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 1 of the 8 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 2 closely-related phenylalanine derivatives, build up in the body. These compounds are toxic to the central nervous system and cause brain damage.

50. Maternal Phenylketonuria. Women and girls of childbearing age with all forms of phenylketonuria, (Report of Medical Research Council Working Party on phenylketonuria, 1993) http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=2777&nbr=2003

51. Phenylketonuria: Screening And Management. Mandated screening for phenylketonuria implies a societal responsibility for Age of Initiation of Treatment for Infants With phenylketonuria http://www.guideline.gov/summary/summary.aspx?doc_id=2716

52. InteliHealth: Phenylketonuria InteliHealth Featuring Harvard Medical School s consumer health information. For more than 550 diseases and conditions, learn What Is It?, Symptoms, http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9615.html

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_comm_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_comm-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? Symptoms Diagnosis Expected Duration ... Additional Info What Is It? Phenylketonuria (PKU) is a rare genetic (inherited) disorder that can cause abnormal mental and physical development if not detected promptly and treated appropriately. Normally, when a person eats foods that contain protein, special chemicals called enzymes break down these proteins into amino acids and even smaller parts, which are the body's building blocks for growth and repair. A person with PKU does not have enough of the specific enzyme that breaks down the amino acid phenylalanine. Therefore, any phenylalanine in the food someone eats cannot be digested properly and collects in the body.

53. PHENYLKETONURIA : Contact A Family - For Families With Disabled Children: Inform Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/p21.html

printer friendly PHENYLKETONURIA home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Phenylketonuria (PKU) is an inherited metabolic condition where there is a defect in phenylalanine hydroxylase. This enzyme normally converts the phenylalanine in the body into tyrosine. Where there is an enzyme block the phenylalanine accumulates in the body tissues and affects the normal development of the brain causing learning difficulties. The heel prick test (Guthrie test) is now done on all newborn babies at 6-10 days of age and can identify PKU at an early age. Phenylalanine is an essential amino acid in dietary protein. In phenylketonuria the body is unable to make phenylalanine into other amino acids. A small quantity is required to ensure normal growth. The diet of an affected child is carefully controlled so that only the small amounts of phenylalanine necessary for growth is given. With a phenylalanine-restricted diet PKU children develop normally. It is imperative that women with PKU should be on a low phenylalanine diet before or from early pregnancy to reduce the risk of fetal abnormality. Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition.

54. Maternal Phenylketonuria -- Committee On Genetics 107 (2): 427 -- AAP Policy Women of childbearing age with all forms of phenylketonuria, including mild The Maternal phenylketonuria Collaborative Study, sponsored by the National http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/427

HOME HELP E-MAIL ALERTS SEARCH POLICY STATEMENT Abstract of this Article PDF Version of this Article Email this article to a friend Similar articles found in: AAP Policy Online PubMed PubMed Citation Download to Citation Manager PEDIATRICS Vol. 107 No. 2 February 2001, pp. 427-428 AMERICAN ACADEMY OF PEDIATRICS: Maternal Phenylketonuria Committee on Genetics ABSTRACT Top Abstract Recommendation References Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy. Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism associated with deficient activity of phenylalanine hydroxylase (PAH) and elevated levels of Phe and Phe metabolites. Untreated, the disorder results in severe

55. Phenylketonuria Signs, Symptoms, Causes, And Prognosis On MedicineNet.com phenylketonuria is an inherited disorder in which signs and symptoms vary from mild to severe. http://www.medicinenet.com/phenylketonuria/article.htm

document.writeln(''); MedicineNet Home > Phenylketonuria search help Printer-Friendly Format FREE Newsletters Email to a Friend ... Next Phenylketonuria What is phenylketonuria? How common is phenylketonuria? What genes are related to phenylketonuria? How do people inherit phenylketonuria? ... What other names do people use for 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. (Amino acids are the building blocks of proteins.) If PKU is not treated, excess phenylalanine can cause mental retardation and other serious health problems. Phenylketonuria is a subtype of hyperphenylalaninemia The signs and symptoms of this disorder vary from mild to very severe. The most severe form of the 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 Less severe forms of PKU (sometimes called moderate or mild PKU) have a smaller risk of brain damage. People with very mild cases may not require treatment with a special diet.

56. Phenylketonuria Signs, Symptoms, Causes, And Prognosis On MedicineNet.com phenylketonuria is an inherited disorder in which signs and symptoms vary from mild to severe. http://www.medicinenet.com/phenylketonuria/

document.writeln(''); MedicineNet Home > Phenylketonuria search help What's Inside the Phenylketonuria Health Center Phenylketonuria Main Article 2 Doctor's Views related to Phenylketonuria 2 Health Features related to Phenylketonuria 2 Doctor's Responses related to Phenylketonuria ... Phenylketonuria RSS feed Our Phenylketonuria Main Article provides a comprehensive look at the who, what, when and how of Phenylketonuria Digestion Newsletter How to Choose a Doctor Join the discussion on the Digestion Message Boards Phenylketonuria related Doctor's Views Doctor: Getting the Most from Your Doctor’s Appointment How to Choose a Doctor Phenylketonuria related Health Features Doctor: Checklist to Take To Your Doctor's Appointment Diet: Are Artificial Sweeteners Safe? Terms related to Phenylketonuria: Folling Disease; Phenylalanine Hydroxylase Deficiency Disease; Phenylketonuria; PKU Medications MedTerms Medical Dictionary Home Help ... Content Solutions 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/AIDS Liver Lung Cond.

57. Phenylketonuria CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00060590.html

MAIN SEARCH INDEX Definition Description Causes ... Resources 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.

58. Phenylketonuria Management phenylketonuria (PKU) is among the most common metabolic disorders; it is inherited as an phenylketonuria results from deficient activity of the enzyme 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. First Home-testing Device For Phenylketonuria (PKU) Patients ? Hometesting kits have made it easier for diabetics and hypertension patients to track their conditions, but such self-monitoring hasn’t been possible http://www.news-medical.net/?id=5982

60. Phenylketonuria (PKU) General Overview A. phenylketonuria (PKU) is a treatable disorder that affects the way the A. phenylketonuria is treated with a special diet that is low in phenyalanine. 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? ... How common is PKU? Q. What is phenylketonuria or PKU? A. Phenylketonuria (PKU) is a treatable disorder that affects the way the body processes protein. Children with PKU cannot use a part of the protein called phenylalanine.

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