1. MedlinePlus Medical Encyclopedia: Phenylketonuria Definition, causes, symptoms and treatment. http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm

@import url(/medlineplus/images/advanced.css); 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 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.

2. PHENYLKETONURIA (PKU) Definition, causes, symptoms and treatments. 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.

3. Phenylketonuria Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), 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.

4. PHENYLKETONURIA (PKU) phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. OMIM - PHENYLKETONURIA http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600

6. Home Page The National Society for phenylketonuria. Click on the link below to go to the new website. www.nspku.org http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. PKULife.com Software designed to benefit those managing the PKU (phenylketonuria) diet. http://www.pkulife.com

Not signed in Home Join Sign In Community ... Food List Email List Sign-up Sign up for our free email list to receive our eNewsletter. Enter your email below: Tell a Friend! Your name: Friend's Email: ForMyDiet Secure Shop Portable Diet Manager v1.1 Help Documentation Price: Premium Member Price: Prima Pizzelle Baker Price: Premium Member Price: Information Center - Get Condition Info - PKU MSUD HCU Tyrosinemia Organic Acidemias Glutaric Acidemia FODs UCD Galactosemia Newborn Screening Celiac Disease Diabetes Kidney Disease Heart Disease Get All Documents -Get Condition Links- PKU MSUD HCU Tyrosinemia Organic Acidemias Glutaric Acidemia FODs UCD Galactosemia Newborn Screening Celiac Disease Diabetes Kidney Disease Heart Disease Get All Links ForMyDiet.com subscribes to the HONcode principles of the Health On the Net Foundation. Verify here Children's Corner School Lunch Ideas Summer is over, now you are back in school. Fun times to learn about new things in the new grade. I know some of you are probably saying school is not fun. But it really is. You have to think of all the new things your teacher is teaching you, it may also be old things but it should be exiting for you to learn. The more...

8. National PKU News Organisation providing information and news to families and professionals. Includes general information about the condition, dietary advice http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. MedlinePlus: Phenylketonuria phenylketonuria. Overviews; phenylketonuria (Mayo Foundation for Medical Education and Research); phenylketonuria (PKU) Interactive Tutorial (Patient http://www.nlm.nih.gov/medlineplus/phenylketonuria.html

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other health topics: A B C D ... List of All Topics Phenylketonuria Contents of this page: Overviews Prevention/Screening Nutrition Genetics ... Organizations Search MEDLINE/PubMed for recent research articles on Phenylketonuria You may also be interested in these MedlinePlus related pages: Genetic Disorders Brain and Nervous System Genetics/Birth Defects Metabolic Problems Overviews Phenylketonuria (Mayo Foundation for Medical Education and Research) Phenylketonuria (PKU) (Patient Education Institute) - Requires Flash Player PKU (March of Dimes Birth Defects Foundation) Also available in: Spanish What Is Phenylketonuria (PKU)? (Dolan DNA Learning Center) Prevention/Screening Newborn Screening Tests (March of Dimes Birth Defects Foundation) Also available in: Spanish Nutrition Is Aspartame Safe for My Child? (Nemours Foundation) Look-Alike Foods: A Solution or a Pandora's Box? (University of Washington PKU Clinic) - Links to PDF What is the Diet for PKU?

10. BIOMARIN PHARMACEUTICAL INC. Researches and develops therapies for debilitating, fatal, chronic genetic disorders causing enzyme deficiency of carbohydrate metabolism, such as phenylketonuria. Headquarters in Novato, California. (Nasdaq BMRN). http://www.biomarinpharm.com/

Message from Management Leadership Team Fact Sheet History ... GLOSSARY Last updated: 08/22/2005 Designed and built by

11. Pku Or Phenylketonuria Is A Metabolic Disorder As Is PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a nonprofit organization offering newborn screening http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Phenylketonuria Brief genetic information. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.

13. NSPKU Home What is the National Society for phenylketonuria (NSPKU)? The NSPKU exists to help and support people with PKU, their families and carers. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Phenylketonuria (PKU) phenylketonuria is one of the commonest inherited disorders occurring in approximately 1 in 10000 babies born in the US It occurs in babies who inherit http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Phenylketonuria.html

Phenylketonuria (PKU) Phenylketonuria is one of the commonest inherited disorders - occurring in approximately 1 in 10,000 babies born in the U. S. It occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase PAH ). This enzyme normally breaks down molecules of the amino acid phenylalanine that are in excess of the body's needs for protein synthesis. Because we inherit two copies of the gene for the enzyme, both must be defective to produce the disease. A laboratory test that measures how quickly an injection of phenylalanine is removed from the blood can distinguish a person who has one PKU gene from a person who has none, but the person with one is perfectly healthy because the unmutated allele produces enough of the enzyme. However, these heterozygous individuals are "carriers" of the disease. The phenylalanine tolerance test. A short time after administering a measured amount of phenylalanine to the subject, the concentration of phenylalanine in the blood plasma is measured. The level is usually substantially higher in people who carry one PKU gene (even though they show no signs of disease) than in individuals who are homozygous for the unmutated gene. Both parents must be heterozygous (i.e., must be "carriers" of the trait) to produce a child with PKU. The chance of their doing so is 1 in 4.

15. Phenylketonuria (PKU) Pediatric Oncall Indepth look at phenylketonuria (PKU). Includes symptoms, diagnosing, newborn screening, treatment and follow up. http://www.pediatriconcall.com/fordoctor/diseasesandcondition/pku.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Image Gallery Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Original Articles Clinical Trials Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out PHENYLKETONURIA (PKU) UserName Password New Register Forgot password Dr. Swati Kolpuru, DCH. INTRODUCTION Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated levels of phenylalanine and phenylalanine metabolites. PKU is inherited as an autosomal recessive trait. 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. Newborn screening is very important for the diagnosis of this disease and has largely eliminated mental retardation caused by this disease. SYMPTOMS Symptoms in newborn Symptoms are usually absent May be abnormally drowsy or listless Feeding difficulty Light hair, skin and eyes

16. Phenylketonuria (PKU) / Family Village Library phenylketonuria (PKU) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Medical References: PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, Undiagnosed maternal phenylketonuria the need for prenatal selective screening http://www.marchofdimes.com/professionals/681_1219.asp

View All Chapters Find Your Local Chapter September 9, 2005 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 1 baby in 14,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is more common in individuals of Northern European and Native American ancestry than in those of African-American, Hispanic and Asian ancestry. What is PKU? Due to a missing or deficient enzyme, children with PKU cannot process a part of the protein called phenylalanine, which is present in nearly all foods. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. How does PKU affect a child?

18. Tuxes For Tia - Black Tie Dinner & Auction A fund raising event for PKU research on behalf of the Piziali Family Foundation for PKU. Learn about phenylketonuria. http://www.tuxesfortia.com

19. Medical References PKU Maternal phenylketonuria. Committee Opinion, number 230, January 2000. Hanley, W.B., et al. Undiagnosed maternal phenylketonuria the need for http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. National PKU News: News And Information About Phenylketonuria phenylketonuria (PKU) / Family Village LibraryLearn More About It * Web Sites * Search Google for phenylketonuria MEDLINEplus phenylketonuria phenylketonuria article and bibliography from OMIM http://www.pkunews.org/

pkunews.org;http://web47.radiant.net/~pkunews/; pkunews.org;http://web47.radiant.net/~pkunews/;

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