1. PHENYLKETONURIA (PKU) A description of phenylketonuria along with a look at the causes, incidence, symptoms and treatment.Category Health Conditions and Diseases Phenylketonuria......DEFINITION Phenylketonuria (PKU) is a genetic disorder that is characterized byan inability of the body to utilize the essential amino acid, phenylalanine. http://www.medhelp.org/lib/pku.htm

DEFINITION: INCIDENCE: Classic PKU and the other causes of hyperphenylalaninemia affect about one of every 10,000 to 20,000 Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females. CAUSE: PKU and the other causes of hyperphenylalaninemia are inherited in a recessive fashion. This means an affected person inherited two traits for the disorder (e.s., one from each parent). A person with one trait for the disorder, is called a 'carrier' for PKU. Carriers do not have symptoms of the disorder. SYMPTOMS: TREATMENT: QM v1.23/b Origin: St Joseph's Medical Center Phoenix (602) 235-9653 (1:114/15.0) 475/476 04 Aug 91 08:04:2 From: grx0644@uoft02.utoledo.edu To: All Subj: 02/PKU Fact Sheet Attr: to reinstitute the PKU diet after a period of 'relaxation' to a regular diet, has been difficult for many individuals. Periodic phenylalanine blood level measurement, and the guidance of a nutritionist and other members of the health care team, allow individuals and families to work toward consistently maintaining the blood level in the desirable range. Fever and illness can cause normal body proteins to break down, the liberation of the body's own amino acids, and thus, a rise of the blood phenylalainine level. The physician and nutritionist can suggest dietary changes to help maintain levels in the desirable range during illness. Medical follow-up often involves periodic developmental screening. This checks for the expected normal development over time, and allows early recognition and intervention for problems.

2. PKU Home Page Group provides facts about the disease, details on how to join the society, and links to other sites. What is Phenylketonuria (PKU)? PKU is a genetic disorder which prevents the normal use of protein food. http://web.ukonline.co.uk/nspku

Welcome to the NSPKU Home Page var site="s10NSPKU" We have also set up a new chat forum. What Else Is New? NSPKU AGM, booking form, and details. PLEASE BE AWARE THIS IS A ONE DAY EVENT! PKU Information for Health Visitor (leaflet only available on the internet) Order NSPKU Merchandise Prescription Details Who gets them free, and what is available. Visit the Department of Health website. We now have a special section for items that are found to be mislabelled What is Phenylketonuria (PKU)? PKU is a genetic disorder which prevents the normal use of protein food. The condition can be treated with a high degree of success if diagnosed shortly after birth. The treatment is based on a low phenylalanine diet. Information provided by the NSPKU is intended for the use of people with PKU, their families and carers. More about PKU More about the NSPKU How to join the NSPKU More about NSPKU publications including conference abstracts. Links to other sites How to contact the NSPKU You may contact us:- by at nspku@ukonline.co.uk by at NSPKU, P. O. Box 26642, London, N14 4ZF

3. NSPKU - What Is Phenylketonuria (PKU) What is Phenylketonuria? Phenylketonuria (PKU) is a genetic disorder which prevents the normal use of protein food. All new born babies should have a test for the condition soon after birth so treatment can be started early. http://web.ukonline.co.uk/nspku/morepku.htm

What is Phenylketonuria? Phenylketonuria (PKU) is a genetic disorder which prevents the normal use of protein food. All new born babies should have a test for the condition soon after birth so treatment can be started early. The food we eat contains protein, one part of which (phenylalanine) cannot be broken down by the person with PKU. Without treatment this leads to impaired brain development but this can be prevented by using a controlled phenylalanine diet. Such a diet means that high protein foods such as meat, fish, poultry, cheese, eggs and cakes and bread made with ordinary flour are not permitted. The Child with PKU - this gives an excellent introduction to Phenylketonuria. Although aimed at the parents of newly diagnosed children with PKU, it describes the condition, its diagnosis and treatment, and gives an overview of the genetic implications of PKU. As such it is a useful reference source for students. Food lists of Phenylalanine Exchanges - one of the prime services that the NSPKU provides to PKU clinics across the UK is the production and maintenance of lists giving the weight of food that contains 50mg of phenylalanine (equivalent of one "exchange"). The lists are regularly updated and are routinely used by the vast majority of PKU people in the UK and their families. Management of PKU - a document produced with a concensus of opinion from the leading medical authorities on PKU in the UK.

4. Spears & MacLeod: Medical Links: Phenylketonuria: Pharmasave :Yarmouth, Nova Sco 13. Phenylketonuria PKU. PKU(phenylketonu is an inherited disorder of body chemistry that, if untreated, causes 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.

5. The Arc's Q & A On PKU Condition Phenylketonuria (PKU). Cause An inherited disorder caused by a build upof an amino acid called phenylalanine that, if left untreated, causes mental 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.

6. Disorders Phenylketonuria (PKU) is a genetic disorder caused by a defeat in a specificprotein an enzyme called phenylalanine hydroxylase - which converts http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

7. Medical References: PKU PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that,if untreated, causes mental retardation. Fortunately, through http://www.marchofdimes.com/printableArticles/681_1219.asp

View All Chapters Find Your Local Chapter April 10, 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 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.

8. Texas Department Of Health-Phenylketonuria Phenylketonuria for PKU People with the rare metabolic disorder phenylketonuria need to adhere to the special special needs and concerns of individuals with phenylketonuria (PKU) and their families. http://www.tdh.state.tx.us/newborn/pku.htm

Newborn Screening Case Management Program Phenylketonuria (PKU) What is Phenylketonuria? ¿Que es la fenilcetonuria? Texas Newborn Screening Program-PKU Schedule of Assessments for Children with PKU ... NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU People with the rare metabolic disorder phenylketonuria need to adhere to the special diet central to their treatment, concluded a Consensus Panel convened by the National Institutes of Health. The conclusion addresses a long-standing difference of opinion about whether people with phenylketonuria could abandon the diet after early childhood. Application for Formula Assistance If you are a resident of the State of Texas and not eligible for private insurance, CSHCN Medicaid WIC , or CHIP , you may be eligible for financial assistance with PKU formula. Please complete the Application for Assistance with Metabolic Formula in Word or PDF (8KB) and mail to: Newborn Screening Program Texas Department of Health 1100 West 49th Street Austin, Texas 78756

9. Phenylketonuria (PKU) And HPA on the disorder. The Montreal Children's Hospital's Resource Booklet for FamiliesComprehensive information on phenylketonuria (PKU) and hyperphenylalaninemia 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.

10. Phenylketonuria - PKU; Treatment, Prevention, Cure Phenylketonuria PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. http://www.healthlinkusa.com/355A.asp

FREE. Would you like your site listed on HealthlinkUSA. Click here View health conditions and concerns alphabetically. A B C D ... Talk Health Thursday April 10, 2003 Search information from 1,000's of today's best health sites Phenylketonuria - PKU Links to websites which may include treatment, cures, diagnosis, prevention, support groups, email lists, messageboards, personal stories, risk factors, statistics, research and more. Featured Sites Become a Featured Site? PKU Support Groups - Resources for Specific Disorders, Parent to Parent Groups, Parent Training and Other Groups Causes, Clinical features of untreated disease, Treatment Related Searches Products and Services Phenylketonuria - PKU Phenylketonuria Pku Search again. Find more information concerning: All Words Any Words Visit the HealthlinkUSA Talk Health Forum Click here to enter the forum Take part in discussions about Visit one of more than 40 featured health areas. Select a Featured Area here Alternative Medicine Bladder Disorders Blood/Lymphatic System Cancer Cardiology Digestive System Digestive Health Endocrine System (Hormones) Environmental Health Genetics/Birth Defects Immune System/AIDS Infections Men's Health Pain Management Reproduction,Pregnancy,Birth

11. Phenylketonuria (PKU) Phenylketonuria (PKU). Includes information about the genetics of PKU, consequencesof the disorder, treatment through diet and a glossary. 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.

12. Full Medical Reports Neurofibromatosis 1. Phenylketonuria (PKU). Sickle cell disorder. SmithLemli-Opitzsyndrome. Phenylketonuria (PKU). Sickle Cell disorder. Smith-Lemli-Opitz Syndrome. http://gslc.genetics.utah.edu/units/newborn/infosheets/

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Genetic Testing of Newborn Infants Full Medical Reports Full Medical Reports Medical information on: Alpha-1-antitrypsin deficiency Alzheimer's disorder - APO E (e4) Breast cancer: BRCA1 and BRCA2 Cystic fibrosis ... Smith-Lemli-Opitz syndrome Next: Cost Considerations Contents Your Challenge Take Action Task Force Roles Letter to Task Force ... General References Download this entire activity as a PDF

13. The Children's Hospital At Westmead - Professionals - Phenylketonuria (PKU) Phenylketonuria (PKU). This disorder is caused when a baby's body cannotbreakdown the amino acid, phenylalanine, which is in protein. http://www.chw.edu.au/prof/services/newborn/pku.htm

Biochemical Genetics CHISM CKR Gene Therapy ... Phenylketonuria (PKU) Phenylketonuria (PKU) This disorder is caused when a baby's body cannot breakdown the amino acid, phenylalanine, which is in protein. PKU is a rare condition due to a recessively inherited deficiency of the enzyme phenylalanine hydroxylase. If the baby is detected by NBS and given a diet low in phenylalanine (very low protein plus a special formula) there will be normal growth and development. Untreated PKU causes severe mental deficiency, which can be avoided if treatment is started in the first weeks of life. Although severe mental deficiency is usual in untreated cases, occasional asymptomatic adults are found with normal or near normal intelligence. Overall, PKU occurs in about 1 in 10,000 babies born in NSW. Variant forms of PKU (hyperphenylalaninaemia): There are several intermediate forms of hyperphenylalaninaemia in which the plasma phenylalanine levels are lower. At present we advocate treatment if phenylalanine levels in the untreated baby are 400 umol/L or more. In about 1% of cases of high blood phenylalaninaemia, the hyperphenylalaninaemia is caused by enzyme defects of biopterin metabolism. These patients need different treatment. Definitive tests can differentiate these variant forms of PKU. In view of the severity of this group of diseases, all infants with persistently abnormal levels of phenylalanine should be tested by analysis of the Dihydropteridine reductase activity in the blood spot. As well, urine tests for biopterin should be performed at the Biochemistry Department.

14. Phenylketonuria (PKU) - Newborn Screening - FDA 510(k) Certification For NeoGram kit, application software and tandem mass spectrometer, will be used worldwide inthe identification of a disorder known as phenylketonuria (PKU), in newborns. http://lifesciences.perkinelmer.com/news/2002/2002-1113.asp

Life Sciences Home Press Releases PerkinElmer Receives FDA Clearance to Market Breakthrough Newborn Screening System Novel detection system screens for metabolic deficiency BOSTON, MA November 13, 2002 - PerkinElmer, Inc. (NYSE: PKI), the leading provider of solutions to newborn screening laboratories, today announced it is the first company to receive FDA 510(k) certification to market a comprehensive screening system to identify whether a newborn may become developmentally impaired or risk premature death. PerkinElmer's NeoGram™ Phenylalanine Test System , consisting of a reagent kit, application software and tandem mass spectrometer, will be used worldwide in the identification of a disorder known as phenylketonuria (PKU), in newborns. PKU is an inborn error of metabolism characterized by the lack of the phenylalanine dehydrogenase enzyme. Without this enzyme, the body is unable to break down the amino acid, phenylalanine, commonly found in food proteins. As a result, phenylalanine builds up in the bloodstream causing several maladies, including irreversible mental retardation and premature death. Early detection of the disorder in newborns allows the administration of a phenylalanine-restricted diet to ensure that the infant will develop normally. Approximately one newborn in every 10,000 is PKU positive. This disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry.

15. Phenylketonuria (PKU) PKU). Phenylketonuria (PKU). PKU is an inherited disorder that preventsthe normal breakdown of a protein found in some foods. Proteins http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Phenylketonuria_(

16. Phenylketonuria - PKU; Treatment, Prevention, Cure inherited disorder of body chemistry PKU (phenylketonuria) is an inherited disorderof body Click here to go to the next page of Phenylketonuria PKU links 1 http://www.healthlinkusa.com/content/355.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Thursday April 10, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

17. Phenylketonuria - PKU; Treatment, Prevention, Cure Bifida Spina Bifida is a rare birth disorder, affecting approximately Phenylketonuria PKU Search here for information which may include treatment, diagnosis http://www.healthlinkusa.com/content/355C.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Thursday April 10, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

18. Phenylketonuria (PKU) - Preliminary Draft PKU is an autosomal/recessive inherited metabolic disorder. A person mustreceive 2 genes for PKU inorder to show symptoms of the disease. 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).

19. MEDLINEplus Medical Encyclopedia: Phenylketonuria A description of phenylketonuria, along with details of the causes, incidence and risk factors.Category Health Conditions and Diseases Phenylketonuria...... Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parentsmust containing aspartame should be avoided by children with this disorder. http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Phenylketonuria Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Phenylketonuria test Phenylketonuria test Alternative names Return to top PKU Definition Return to top 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 Return to top 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.

20. Phenylketonuria (PKU): Screening And Management (CBM 2000-4) Phenylketonuria (PKU) Screening and Management. Phenylketonuria or PKU is a rare,inherited metabolic disorder that, if untreated, causes mental retardation. http://www.nlm.nih.gov/pubs/cbm/pku.html

Current Bibliographies in Medicine 2000-4 Phenylketonuria (PKU): Screening and Management Table of Contents Series Note PDF Version of This CBM Sample Citations Introduction Bibliography History and Classic Material Overviews and Reviews Ethics, Laws, and Policies Economics and Socioeconomics ... Return to the top January 1980 through July 2000, plus selected earlier citations 3394 Citations Prepared by Karen Patrias, M.L.S., National Library of Medicine Felix F. de la Cruz, M.D., M.P.H., National Institute of Child Health and Human Development 2000 September U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES Public Health Service National Institutes of Health National Library of Medicine Reference Section 8600 Rockville Pike Bethesda, Maryland 20894 Series Note TM TM Publications in the Current Bibliographies in Medicine series are available at no cost to anyone with Internet access through the Library's World Wide Web site at http://www.nlm.nih.gov/pubs/resources.html Comments and suggestions on this series may be addressed to: Karen Patrias, Editor

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 1     1-20 of 87    1  | 2  | 3  | 4  | 5  | Next 20