1. PHENYLKETONURIA (PKU) DEFINITION Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. http://www.medhelp.org/lib/pku.htm&e=747

2. Pku Or Phenylketonuria Is A Metabolic Disorder As Is Hyperphenylalaninemia. PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a nonprofit organization offering newborn screening to detect these diseases in their early stages . http://www.pkunetwork.org/

PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a non-profit organization offering newborn screening to detect these diseases in their early stages. What is PKU? Newborn Express Packs / Maternal Express Packs Scale Purchases and Information Crisis Intervention Applications / Scholarship Applications / Clearinghouse Donations Related Metabolic Disorders PKU-related Links Food/Formula Supplier Links Let us help you! 3790 Via De La Valle, Ste 120, Del Mar, CA 92014 Phone: (800) 377-6677(toll-free) / (858) 509-0767 / Fax: (858) 509-0768 Email: pkunetwork@aol.com Updated March 2001 The information contained in the Children's PKU Network web site is for educational and informational purposes only, and is not intended to replace, and should not be interpreted or relied upon as, professional advice, whether medical or otherwise. This web site was originally created and donated by the Defense Technical Information Center - MATRIS Office as part of Hands On San Diego 2000, a volunteer program. 09/2000 PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a non-profit organization offering newborn screening to detect these diseases in their early stages.

3. Living With A Genetic Disorder - Phenylketonuria (PKU) - The GEEE! Living with a genetic disorder. Life without proteins. Marie Delisle has phenylketonuria (PKU), a genetic disorder. PKU is caused http://www.nature.ca/genome/03/d/10/03d_14c_e.cfm&e=747

4. PHENYLKETONURIA (PKU) DEFINITION Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. Amino acids are the building blocks for 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.

5. 404 Not Found The Genetic disorder Phenylketonuria (PKU) Essays and Term Papers A brief examination of this disorder, which affects brain development. http://www.health-nexus.com/phenylketonuria.htm&e=747

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6. The Arc's Q & A On PKU Phenylketonuria (PKU) What is PKU? PKU, which stands for Phenylketonuria, is an inherited metabolic recessive and Xlinked. PKU is an autosomal recessive disorder. Each parent of 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.

7. Term Papers, Essays, Research Papers, Book Reports - AcaDemon The Genetic disorder Phenylketonuria (PKU). A brief Oregon. Abstract. An Overview of the Genetic disorder Phenylketonuria (PKU). A http://www.academon.com/lib/paper/1472.html&e=747

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8. Phenylketonuria Nutritional and Metabolic Diseases. Phenylketonuria. Phenylketonuria (PKU) is an inherited error of Classical PKU is an autosomal recessive disorder, caused by mutations in both http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View PAH on chromosome 12 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information National PKU News news and information about PKU GeneClinics a medical genetics resource PHENYLKETONURIA (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this enzyme results in mental retardation, organ damage, unusual posture and can, in cases of maternal PKU, severely compromise pregnancy. Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate. A form of PKU has been discovered in mice, and these model organisms are helping us to better understand the disease, and find treatments against it. With careful dietary supervision, children born with PKU can lead normal lives, and mothers who have the disease can produce healthy children.

9. Phenylketonuria (PKU). Phenylketonuria (PKU). PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods. Proteins http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Phenylketonuria_(

10. I Had PKU - Condition Phenylketonuria PKU. This disorder is caused by the child's inability to break Clinical Features. Classical phenylketonuria is a disorder in which the blood phenylalanine http://www.newbornscreening.com/main.php3?action=displayarticle&articleid=22

11. The Arc S Q A On PKU Condition Phenylketonuria (PKU). Cause An inherited disorder caused by a build up of an amino acid called phenylalanine that, if left untreated, causes mental http://www.thearc.org/faqs/pku.html&e=747

12. Phenylketonuria (PKU) Test, Blood Phenylketonuria (PKU) Test, Blood. Number. 003491 hyperphenylalaninemia implies a disorder of phenylalanine hydroxylation (to tyrosine). PKU, due to phenylalanine http://www.labcorp.com/datasets/labcorp/html/chapter/mono/sr012400.htm

Phenylketonuria (PKU) Test, Blood Number CPT Synonyms Phenylalanine Test; PKU; PKU Test Special Instructions State patient's exact age on the request form. Specimen Blood Container Filter paper Collection Causes for Rejection Filter paper not thoroughly saturated; cord blood Reference Interval 0-4 mg/dL Use Evaluate patients for phenylketonuria; monitor therapy with phenylalanine restricted diet Limitations Cases have been missed because blood phenylalanine was not increased, even after the third day of life. Identification of non-PKU forms of hyperphenylalaninemia require additional testing for tetrahydrobiopterin pathway enzyme defects. Not all individuals with increased blood phenylalanine have phenylketonuria. When the infant is tested for PKU before 24 hours of age, there is a 16% chance of missing a positive case. When tested between 24 and 48 hours of birth, there is a 2.2% chance of missing a positive, between 48 and 72 hours, 0.3% chance. Methodology Enzyme immunoassay (EIA) Additional Information Successful detection of phenylketonuria by testing newborns for hyperphenylalaninemia has as its goal the identification of infants subject to central nervous system damage (in particular mental retardation) due to excessive levels of phenylalanine. Once identified, harmful CNS effects can be largely avoided by dietary measures, notably a semisynthetic diet low in phenylalanine. Widespread institution of PKU testing programs, worldwide, is an outstanding public health triumph of the 20th century. Incidence is 1:10,000 to 1:25,000 in the United States. For blacks in Maryland the reported incidence is 1:50,000.

13. Phenylketonuria (PKU) Phenylketonuria (PKU). Includes information about the genetics of PKU, consequences of the disorder, treatment through diet and a glossary. http://gslc.genetics.utah.edu/units/newborn/infosheets/PKU.cfm&e=747

14. Phenylketonuria (PKU): Screening And Management (CBM 2000-4) Current Bibliographies in Medicine 20004. Phenylketonuria (PKU) Screening and Management Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes http://www.nlm.nih.gov/pubs/cbm/pku.html

Skip to Content Search NLM Web Site NLM Home Contact NLM Site Map FAQs Current Bibliographies in Medicine Current Bibliographies in Medicine Home Download Adobe Acrobat Reader Home Library Catalogs and Services ... Current Bibliographies in Medicine 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

15. Sickle Cell Disorder Newborn Genetic Testing Home Newborn Genetic Screening Full Medical Reports Sickle Cell disorder Sickle Cell disorder. Sickle cell http://gslc.genetics.utah.edu/units/newborn/infosheets/sicklecelldisorder.cfm&e=

16. Disorders Phenylketonuria (PKU) is a genetic disorder caused by a defeat in a specific protein an enzyme called phenylalanine hydroxylase - which converts http://www.pku-allieddisorders.org/allieddisorders.htm&e=747

17. Texas Department Of Health-Phenylketonuria Long Care for PKU People with the rare metabolic disorder phenylketonuria need to adhere to 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

18. Human Research Protection Phenylketonuria (PKU) is an inherited disorder that, if untreated, causes profound mental retardation as well as other medical problems. http://www.pku-allieddisorders.org/research3.htm&e=747

19. Phenylketonuria Phenylketonuria PKU. PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes baby in 15 000 is born with PKU in the United States http://gunsmoke.ecn.purdue.edu/~kpasquet/project/pku.html

Phenylketonuria - PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, most affected newborns are now diagnosed and treated early, allowing them to grow up free of mental retardation. About one baby in 15,000 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. 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. Children born with PKU appear normal for the first few months. Untreated, at three to five months they begin to lose interest in their surroundings and, by the time they are a year old, they are mentally retarded. Children with PKU often are irritable, restless and destructive. They may have a musty odor about them, and often have dry skin or rashes. Some have convulsions. Usually, they become physically well developed children, and have blonder hair than their relatives. PKU is inherited when both parents have the PKU gene and pass it on to their baby. A parent who has the PKU gene, but not the disease, is called a "carrier." A carrier has a normal gene as well as a PKU gene in each cell. A carrier's health is not affected in any known way. When both parents are carriers, there is a one-in-four chance that each will pass the PKU gene on to a child, causing it to be born with the disease. There also is a one-in-four chance that they will each pass on a normal gene, and the child will be free of the disease. There is a two-in-four chance that a baby will inherit the PKU gene from one parent and the normal gene from the other, making it a carrier like its parents. These chances are the same in each pregnancy.

20. Phenylketonuria (PKU) Phenylketonuria (PKU) is an inherited disorder caused by the absence of a substance (enzyme) the body needs to break down an amino acid called phenylalanine. http://www.meritcare.com/hwdb/_followLink.asp?sgml_id=stp1354&e=747

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