Geometry.Net - Health_Conditions: Phenylketonuria

Phenylketonuria
phenylketonuria (PKU) a genetic disease, inherited as a recessive, brought aboutby the absence of the enzyme responsible for the conversion of the amino acid
http://www.webref.org/anthropology/p/phenylketonuria.htm

Extractions: Free T-Mobile Long Distance phenylketonuria (PKU): a genetic disease, inherited as a recessive, brought about by the absence of the enzyme responsible for the conversion of the amino acid phenylalanine to tyrosine. Phenylalanine accumulates in the blood and then breaks down into by-products that cause severe mental retardation in addition to other symptoms. Source: Anthromorphemics
Phenylketonuria
phenylketonuria. Click Here. A B C D E F G H I J K L M N O P QR S T U V W X Y Z Books Credits. A genetic disorder that, through
http://www.webref.org/psychology/p/phenylketonuria.htm
Phenylketonuria Management
phenylketonuria Background phenylketonuria (PKU) is among the most commonmetabolic disorders; it is inherited as an autosomal recessive trait.
http://www.meadjohnson.com/metabolics/phenylketonuria.html

Extractions: 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.
Genesis Health System - Detailed Disease Info - Phenylketonuria
phenylketonuria. phenylketonuria (PKU) is a rare, inherited, metabolic disorderthat can result in mental retardation and other neurological problems.
http://www.genesishealth.com/micromedex/detaileddisease/00060590.aspx

Extractions: Facility Information DeWitt Comm Hosp Genesis Medical Ctr Illini Hospital Genesis Health Grp VNA 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. 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.
Phenylketonuria (PKU, Classical PKU)
phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulationof the amino acid phenylalanine and reduced levels of the amino acid L
http://www.hollandandbarrett.com/Concern/Phenylketonuria.htm

Extractions: Phenylketonuria Also indexed as: Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid phenylalanine and reduced levels of the amino acid L-tyrosine in the blood. If untreated, high levels of phenylalanine can cause severe mental retardation, behavioural disturbances, and other neurological problems. Eczema sensitivity to sunlight Fortunately, newborn screening programmes now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions. Gene therapy is currently being researched as a possible cure. Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes and amino acids. Conventional treatment options: Conventional treatment consists of strict adherence to a diet low in phenylalanine , in order to prevent a buildup of phenylalanine in the body, and supplementing with the amino acid tyrosine Lifestyle changes that may be helpful: Dietary changes that may be helpful: PKU can be controlled by a diet low in phenylalanine The greatest benefits are achieved when the diet is started in the first few days of life
Nebraska Newborn Screening Program: Phenylketonuria (PKU)
phenylketonuria (PKU). What is it? phenylketonuria (FEEnil-KEE-tone-u-ree-ah)or PKU is an inherited disease. It is caused by
http://www.hhs.state.ne.us/nsp/Newborn4.htm

Extractions: Phenylketonuria (FEE-nil-KEE-tone-u-ree-ah) or PKU is an inherited disease. It is caused by the build up of the amino acid Phenylalanine (FEE-nil-AL-an-een), or phe. Normally the body can get rid of extra phe, but those with PKU cannot. Phenylalanine is one of the building blocks of protein. It is found in protein foods like milk, meats, eggs, and cheese. After eating these foods, the phe levels in a person with PKU may get too high. The effects of high levels of phe include nerve and brain cell damage which may result in mental retardation. This damage can be greatly reduced by placing the child on a special diet within the first few days of life. My child had an abnormal test. What do I do now? An abnormal test does not necessarily mean your child has PKU. But the only way to make sure is to have what is called a "confirmatory test." This test is more specific than the first test and can give your doctor more information. The first thing to do is to get your child retested as soon as possible. If your child does have PKU, damage can be prevented if it is found and treatment started within the first few days of life. So the most important thing to do is to get your child retested quickly. My doctor said the test was drawn too early. What does that mean?
InteliHealth: Phenylketonuria
referenced in an AZ format. phenylketonuria (PKU). Health A to Z, Reviewedby the Faculty of Harvard Medical School phenylketonuria (PKU)
http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9615.html
Glossary
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 phenylketonuria (PKU) disorderthat is present when an infant does not have an enzyme necessary for the
http://www.lamaze.com/tools/glossary/0,9472,176132,00.html

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Phenylketonuria - Wikipedia
phenylketonuria. See also http//www.ehendrick.org/healthy/00060590.htmlhttp//www.ultranet.com/~jkimball/BiologyPages/P/phenylketonuria.html,
http://www.wikipedia.org/wiki/Phenylketonuria

Extractions: Main Page Recent changes Edit this page Older versions Special pages Set my user preferences My watchlist Recently updated pages Upload image files Image list Registered users Site statistics Random article Orphaned articles Orphaned images Popular articles Most wanted articles Short articles Long articles Newly created articles Interlanguage links All pages by title Blocked IP addresses Maintenance page External book sources Printable version Talk Log in Help From Wikipedia, the free encyclopedia. Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland PKU is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. This enzyme normally converts the amino acid phenylalanine to tyrosine . If, due to a faulty or missing enzyme, this reaction does not take place, levels of phenylalanine in the body can be far higher than normal, and levels of tyrosine lower than normal. Excess phenylalanine in the blood harms brain development in the child, leading to
ORPHANET® : Phenylketonuria
ORPHANET. ORPHANET database access. phenylketonuria. Direct access todetails Alias Phenylalanine hydroxylase total deficiency. Home Page.
http://www.orpha.net/static/GB/phenylketonuria.html
Phenylketonuria (PKU) And HPA
Links to information and resources for phenylketonuria (PKU) and hyperphenylalaninemia(HPA). phenylketonuria (PKU) and HPA Guide picks.
http://rarediseases.about.com/cs/phenylketonuria/
Spears & MacLeod: Medical Links: Phenylketonuria: Pharmasave :Yarmouth, Nova Sco
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
http://www.spearsmacleod.com/links/p/phenylke/

Extractions: 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) 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
Phenylketonuria
Tips for printing. phenylketonuria PKU phenylketonuria PKU Special ResourcesSOS Ask experts or consultants for information phenylketonuria.
http://ibis-birthdefects.org/start/pkufact.htm

Extractions: PKU (phenylketonuria), in its "classic" form, is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. When a very strict diet is begun early and well-maintained, effected children can expect normal development and a normal life span. (Not all elevations of blood phenylalanine require treatment; any child with a level less than 6 mg/dl does not need to be on a special diet and is not risk for mental retardation.)
Phenylketonuria
phenylketonuria. Definition phenylketonuria (PKU) is a rare hereditary conditionin which the amino acid phenylalanine is not properly metabolized.
http://www.pennhealth.com/ency/article/001166.htm

Extractions: 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.
Medic-Planet Phenylketonuria
phenylketonuria See also Genetic diseases, Back to the Index pagephenylketonuria phenylketonuria (PKU) (FENil-keed-uh-NYOOR-ee
http://www.medic-planet.com/MP_article/internal_reference/Phenylketonuria
PBS - Who Cares: Chronic Illness In America -- Becky Shively
Becky Shively Niagara Falls, NY I am a Mom of a PKU (phenylketonuria)child. He was born looking perfectly normal on the outside.
http://www.pbs.org/fredfriendly/whocares/your_stories/becky_shively.html

Extractions: I am a Mom of a PKU (phenylketonuria) child. He was born looking perfectly normal on the outside. I received a call when he was 10 days old that there was a problem and I knew he had PKU. He has a half-sibling from his father's previous marriage with the disorder. The hospital was amazed. They had never heard before of half-siblings having PKU, since both parents have to be carries. What was even more amazing was that my friend of 20 years had a girl four years earlier with severe PKU. I used to say for an extremly rare disease I sure had enough kids with it running around my house. The blood tests that need to be done are the easy part. The kids get used to it and don't usually put up much of a fight. The everyday heartache comes when feeding your child could damage them mentally. With PKU a certain enzyme that digests a specfic part of protein is missing causing it to toxify the brain. Researchers are unsure how a liver defect can cause brain damage, but with PKU it does. The diet is made mostly of fruits and vegetables. Specially made pasta, breads and now cheeses! There is a special formula they need to consume everyday. It is a very time consuming endever. I am constantly boiling pasta or mixing up baked goods. The foods are terribly expensive and hard to get. Insurance pays for my son's diet, but others are not so lucky. Parents know without this food the diet is impossible to maintain a good blood level. It is for those other parents, my girlfriend included, that I started a support group. To find other parents and to unite to help our children "get the basics" namely food.
Health Ency.: Disease: Phenylketonuria
phenylketonuria See images. PKU. Definition phenylketonuria is a rare hereditarycondition in which the amino acid phenylalanine is not properly metabolized.
http://www.austin360.com/shared/health/adam/ency/article/001166.html

Extractions: Important notice Ency. home Disease P Phenylketonuria See images Overview Symptoms Treatment ... Prevention Alternative names: PKU Definition: Phenylketonuria is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. This can cause severe mental retardation Causes and Risks Phenylketonuria (PKU) is inherited as an autosomal recessive trait. Because PKU can be easily detected by a simple blood test and it is a treatable disease, most states require a screening test for all newborns. 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 develop. These compounds are toxic to the central nervous system and cause brain damage.
Phenylketonuria
Swiki Help Guide phenylketonuria. phenylketonuria Fall Semester 2001,Seth Lilavivat, Greg Forlenza, Heather Yi. Contents PKU Introduction
http://pbl.cc.gatech.edu/mindy/711
Phenylketonuria (PKU) - Preliminary Draft
What is phenylketonuria, and how is it treated? phenylketonuria, betterknown as PKU, is defined as an inborn error of metabolism.
http://srv2.lycoming.edu/~newman/courses/bio22298/disorderpapers/Pku/preliminary

Extractions: 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).
Screening: Phenylketonuria
Screening. phenylketonuria. US Preventive Services Task Force 1996.Recommendation. Screening for phenylketonuria (PKU) by measurment
http://www.ahcpr.gov/clinic/uspstf/uspsspku.htm

Extractions: 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

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