21. The Contact A Family Directory - PHENYLKETONURIA printer friendly, phenylketonuria, article. NATIONAL SOCIETY FOR phenylketonuria(UK) LTD. National Society for phenylketonuria (UK) Ltd http://www.cafamily.org.uk/Direct/p21.html

printer friendly PHENYLKETONURIA home more about us in your area conditions information ... how you can help search this site 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 and can identify PKU at an early age. Phenylalanine is an essential amino acid which occurs in all protein. In phenylketonuria the body is unable to make phenylalanine from 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 phenylketonuria (PKU) should seek specialist medical advice before becoming pregnant. Inheritance patterns Autosomal recessive. Genetic advice is available for families with the condition.

22. NIH Consensus Statements: 113. Phenylketonuria: Screening And Management 113. phenylketonuria Screening and Management This statement was originallypublished as phenylketonuria Screening and Management. http://consensus.nih.gov/cons/113/113_statement.htm

113. Phenylketonuria: Screening and Management National Institutes of Health Consensus Development Conference Statement October 16-18, 2000 This statement was originally published as: Phenylketonuria: Screening and Management. NIH Consensus Statement 2000 October 16-18; 17(3): 1-27. For making bibliographic reference to consensus statement no. 113 in the electronic form displayed here, it is recommended that the following format be used: NIH Consensus Statements are prepared by a nonadvocate, non-Federal panel of experts, based on (1) presentations by investigators working in areas relevant to the consensus questions during a 2-day public session; (2) questions and statements from conference attendees during open discussion periods that are part of the public session; and (3) closed deliberations by the panel during the remainder of the second day and morning of the third. This statement is an independent report of the panel and is not a policy statement of the NIH or the Federal Government. The statement reflects the panelís assessment of medical knowledge available at the time the statement was written. Thus, it provides a "snapshot in time" of the state of knowledge on the conference topic. When reading the statement, keep in mind that new knowledge is inevitably accumulating through medical research.

23. Consensus Statement Overview: Antenatal Corticosteroids Revisited: Repeat Course of charge from NIH Videocasting.) Day 1 Day 2. phenylketonuria (PKU)Screening and Management October 1618, 2000 Vol. 17, No. 3. http://consensus.nih.gov/cons/113/113_intro.htm

Related Conference Materials News Release Program and Abstract Book (PDF file) NLM Bibliography Phenylketonuria (PKU) Conference Videocast (Requires RealPlayer software, which can be downloaded free of charge from NIH Videocasting Day 1 Day 2 Phenylketonuria (PKU): Screening and Management October 16-18, 2000 Vol. 17, No. 3 Read Final NIH Consensus Statement Download Final NIH Consensus Statement (PDF file) Free CME online NOTE: NIH Consensus Statements are prepared by a nonadvocate, non-Federal panel of experts, based on (1) presentations by investigators working in areas relevant to the consensus questions during a 2-day public session; (2) questions and statements from conference attendees during open discussion periods that are part of the public session; and (3) closed deliberations by the panel during the remainder of the second day and morning of the third. This statement is an independent report of the panel and is not a policy statement of the NIH or the Federal Government.

24. PKU SEARCH OUR SITE. phenylketonuria (PKU) An Amino Acid Disorder What is it? Studiesshow that 1 of every 17,000 live births will have phenylketonuria. http://www.savebabies.org/diseasedescriptions/pku.htm

HOME Newborn Screening Information Find out what your state screens for, answers to frequently asked questions, and much more. Disease Descriptions Read a short description of each of the over 55 disease currently detectable through newborn screening. Family Stories Meet the families behind the statistics Promoting Screening Tips for promoting screening awareness. Awareness Projects Learn about the numerous grass-roots projects to help raise the awareness of newborn screening. Resource Library Locate numerous newborn screening related medical articles, awareness materials, research participation forms, and much more. Event Calendar Find a listing on Newborn screening related events. Fundraising Activities Help raise much needed funds by hosting or participating in a fundraising event. Other Sites of Interest Find a listing of other newborn screening related websites. SEARCH OUR SITE Phenylketonuria (PKU) An Amino Acid Disorder What is it?

25. Phenylketonuria phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulationof the amino acid, phenylalanine, and reduced levels of the amino acid http://www.healthwell.com/healthnotes/Concern/Phenylketonuria.cfm

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26. Phenylketonuria CTFPHC Systematic Reviews Recommendations. Please select the formatin which you want to view this review Screening for phenylketonuria. 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.

27. CTF Full Text Review: Phenylketonuria Full Text Review. Screening for phenylketonuria. UpOverview. There is good evidencefor universal newborn screening and treatment for phenylketonuria (PKU). http://www.ctfphc.org/Full_Text/Ch17full.htm

Canadian Task Force on Preventive Health Care Full Text Review 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) Burden of Suffering Phenylketonuria is an inborn error of phenylalanine metabolism that occurs in out of every Efficacy of Screening Tests m mol/L (0.

28. [Clinical Preventive Services] Screening For Phenylketonuria Guide to Clinical Preventive Services, Second Edition Congenital Disorders Screeningfor phenylketonuria. Phenylpyruvic oligophrenia (phenylketonuria). 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

29. Phenylketonuria In 1965 an American doctor, Dr. Robert Guthrie, created a relativelysimple procedure to test for phenylketonuria in newborns. The http://www.csmd.ca/pku.htm

Phenylketonuria Home Up [ Phenylketonuria ] Galactosemia Cystinosis Gaucher's Disease Urea Cycle Disorders ... Hereditary Tyrosinemia PKU is the first metabolic disorder which has been shown to be treatable through dietary restriction with a great measure of success. PKU occurs in approximately 1 in every 20,000 live births in North America. In 1965 an American doctor, Dr. Robert Guthrie, created a relatively simple procedure to test for phenylketonuria in newborns. The Guthrie test has been in use worldwide since then, with many children born with PKU growing up to lead normal, healthy adult lives. www.PKUNews.org - A comprehensive website on phenylketonuria www.PKUAdults.com - A website for adults with PKU who are off diet Return to " How many are there? "

30. Phenylketonuria BabyZone Home drnathan/left.htm. phenylketonuria Individuals withphenylketonuria (PKU) lack an enzyme, phenylalanine hydroxylase. http://www.babyzone.com/drnathan/P/Phenylketonuria.htm

[drnathan/left.htm] Phenylketonuria A congenital defect in the metabolism of the amino acid, phenylalanine. Individuals with phenylketonuria (PKU) lack an enzyme, phenylalanine hydroxylase. This enzyme breaks down phenylalanine, a normally occuring amino acid. Failure to metabolize phenylalanine results in its accumulation causing severe brain injury and mental retardation. Infants with PKU who receive early treatment of dietary restriction of phenylalanine, have a much better outcome than those who are not treated. Hence, early treatment is essential. Children with PKU appear normal at birth and the obvious signs of the disease may not appear until brain damage has already occurred. Therefore, virtually all infants in the U.S. are tested for PKU at birth. You should ask your pediatrician for the results of this test at your first newborn check-up. BabyZone: Pregnancy/Prenatal Tests Dr. Nathan: Screening for Genetic and Other Defects [drnathan/sitedex.htm] [drnathan/right.htm]

31. MedWebPlus Subject Phenylketonuria phenylketonuria Broader Terms Web Sites A, , GO, European Society forphenylketonuria and Allied Disorders Treated as phenylketonuria (ES.PKU). http://www.medwebplus.com/subject/Phenylketonuria

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Phenylketonuria Broader Terms: All Diseases Hereditary Diseases Metabolic Diseases Brain Diseases ... Metabolism, Inborn Errors Related Terms: Angelman Syndrome Fragile X Syndrome Hepatolenticular Degeneration Tuberous Sclerosis ... Prader-Willi Syndrome Focussed Subsets: Enzymology therapy Web Sites: A GO European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) A GO GeneClinics: Medical Genetics Knowledge Base Phenylalanine Hydroxylase Deficiency [PAH Deficiency. Includes: Hyperphenylalaninemia (HPA), Phenylketonuria (PKU)]; Authors: Shannon R Ryan; Charles R Scriver. Last update: 24 November 1999 A GO March of Dimes Birth Defects Foundation PKU (phenylketonuria) A GO Montreal Children's Hospital. Hyperphenylalaninemia (PKU) Resource Booklet for Families A GO National Center for Biotechnology Information Genes and disease: Phenylketonuria A GO National Library of Medicine.

32. MedWebPlus Subject Diseases And Conditions Hereditary Diseases Web Sites A, , GO, European Society for phenylketonuria and AlliedDisorders Treated as phenylketonuria (ES.PKU). A, -, GO, GeneClinics http://www.medwebplus.com/subject/Diseases_and_Conditions/Hereditary_Diseases/Ph

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Diseases and Conditions Hereditary Diseases Phenylketonuria Broader Terms: All Diseases Brain Diseases Mental Retardation Metabolic Diseases ... Metabolism, Inborn Errors Related Terms: Angelman Syndrome Fragile X Syndrome Hepatolenticular Degeneration Tuberous Sclerosis ... Prader-Willi Syndrome Web Sites: A GO European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) A GO GeneClinics: Medical Genetics Knowledge Base Phenylalanine Hydroxylase Deficiency [PAH Deficiency. Includes: Hyperphenylalaninemia (HPA), Phenylketonuria (PKU)]; Authors: Shannon R Ryan; Charles R Scriver. Last update: 24 November 1999 A GO March of Dimes Birth Defects Foundation PKU (phenylketonuria) A GO Montreal Children's Hospital. Hyperphenylalaninemia (PKU) Resource Booklet for Families A GO National Center for Biotechnology Information Genes and disease: Phenylketonuria A GO National Library of Medicine.

33. Medical References: PKU Quick Reference and Fact Sheets. PKU PKU (phenylketonuria) is an inheriteddisorder of body chemistry that, if untreated, causes mental retardation. http://www.marchofdimes.com/pnhec/681_1219.asp

View All Chapters Find Your Local Chapter March 31, 2003 Select one Folic Acid Pregnancy Prenatal Screening Infections/Diseases Loss Concerns Newborn Information Birth Defects Polio Genetics Research Funding Perinatal Statistics Medical References Continuing Education ... Prematurity Quick Reference and Fact Sheets PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, through routine newborn screening, almost all affected newborns are now diagnosed and treated early, allowing them to grow up with normal intelligence. About one baby in 10,000 to 25,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry. What Is PKU? PKU is a disease that affects the way the body processes protein. Children with PKU cannot process a part of the protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage. How Does PKU Affect a Child? Children born with PKU appear normal for the first few months. If untreated, by three to six months they begin to lose interest in their surroundings and, by the time they are a year old, they are obviously developmentally delayed. Children with untreated PKU who have suffered central nervous system damage often are irritable, restless and destructive. They may have a musty odor about them, and may have dry skin, rashes or convulsions. They are usually physically well developed and tend to have blonder hair than their siblings.

34. EMedicine - Phenylketonuria : Article By Georgianne L Arnold, MD phenylketonuria phenylketonuria (PKU) is an inborn error of protein metabolismthat results from an impaired ability to metabolize the essential amino acid http://www.emedicine.com/PED/topic1787.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Phenylketonuria Last Updated: March 22, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: PKU 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, University Hospital for Children and Adolescents, Erlangen, Germany; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD

35. EMedicine - Phenylketonuria : Article By Djordjije Karadaglic, MD, DSc phenylketonuria phenylketonuria (PKU) is the most common inborn error ofamino acid metabolism. phenylketonuria. Last Updated November 16, 2001, http://www.emedicine.com/derm/topic712.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Phenylketonuria Last Updated: November 16, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: hyperphenylalaninemia type I, Folling’s disease, phenylpyruvic oligophrenia AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Djordjije Karadaglic, MD, DSc , President of Yugoslav Association of Dermatology and Venereology, President of Belgrade Dermatology Days; Professor, Head, Department of Dermatology and Venereology, Military Medical Academy of Belgrade, Yugoslavia Coauthor(s): Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Lecturer, Head, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Yugoslavia; Zeljko P Mijuskovic, MD , Consulting Staff, Department of Dermatology and Venereology, Military Medical Academy, Belgrade Editor(s): Mark A Crowe, MD

36. 1Up Health > Phenylketonuria > Causes, Incidence, And Risk Factors Of Phenylketo Comprehesive information on phenylketonuria (PKU). 1Up Health Diseases Conditions phenylketonuria Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/phenylketonuria_info.html

1Up Health Phenylketonuria Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Phenylketonuria Information Phenylketonuria Causes, Incidence, and Risk Factors Alternative 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. 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.

37. E.S.PKU Homepage BH4 and mild PKU An new German/American study has shown that some patients withmild phenylketonuria (hyperphenylalaninemia) might be treated with a drug http://www.espku.org/

PKU Other metabolic disorders E.S.PKU travel database The E.S.PKU has made a European travel database with addresses and families who are interested in exchanging. That will make it easier for PKU's to travel to foreign countries without having to worry about their diet. Read more about it at the Or go directly to the database Multilingual ESPKU There are several ways to read this site in another language than English. One of them is the Google translation which translates complete webpages into another language. It's NOT perfect, but it will do for most of the text on this site. Translate this page to Spanish Portuguese French German Italian Japanese Korean Chinese(Simplified) BH4 and mild PKU An new German/American study has shown that some patients with mild phenylketonuria (hyperphenylalaninemia) might be treated with a drug called Tetrahydrobiopterin or BH4. PKU Center Sevilla The PKU society in Sevilla, in the South of Spain, has opened a center that is exclusively for PKU's and PKU organizations. The name of this center is European Social Center for Phenylketonuria and Other Metabolic Disorders or in Spanish: Centro Social Europeo PKU y o.t.m.

38. Phenylketonuria (PKU) Newborn Genetic Testing Home Genetic Testing of Newborn Infants FullMedical Reports phenylketonuria (PKU) phenylketonuria (PKU). 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.

39. Advanced Search Issues in Newborn Screening for phenylketonuria. TABLE 1 Followup Testingin Response to the Initial Results of Newborn phenylketonuria Screening. http://www.aafp.org/afp/991001ap/1462.html

Advanced Search 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. Untreated, PKU results in severe mental retardation, but the exact pathogenesis of the mental defect is still not clear.

40. Health Care Professionals' Guide To Newborn Screening - Phenylketonuria (PKU) phenylketonuria (PKU). Autosomal recessive hyperphenylalanemia causedprimarily by a deficiency of phenylalanine hydroxylase activity http://www.slh.wisc.edu/newborn/guide/phenylketonuria.shtml

Phenylketonuria (PKU) Autosomal recessive hyperphenylalanemia caused primarily by a deficiency of phenylalanine hydroxylase activity or imparied synthesis or recycling of the biopterin (BN4) cofactor. Early detection and treatment is essential to prevent associated mental retardation. Prevalence (WI): Analytes Measured: Phenylalanine (Quantitative) Reporting Ranges: Feeding Effect: Minimal (See comment below.) Timing Effect: 24 hours of age: Results are valid. Confirmation: Treatment: The mainstay of treatment for PKU is the low-phenylalanine diet. Treatment should begin as soon after birth as possible and be continuous throughout childhood and adolescence. Low phenylalanine infant formulas are available free of charge through the state's three metabolic clinics. COMMENT: The use of quantitative phenylalanine measurements increases the ability to detect PKU earlier in the baby’s life than previously used qualitative assays. This, and the fact that phenylalanine levels are often (greater than 90% of the time) above normal at birth and continue to rise in the first hours of life, decrease the need for a protein feeding for the detection of PKU. The program has detected PKU in babies when samples were collected before 8 hours of age and prior to a protein feeding.

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