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Phenylketonuria-pku Disorder: more detail

21st Century Ultimate Medical Guide to Phenylketonuria (PKU) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-05
Phenylketonuria (PKU) Toolkit - Comprehensive Medical Encyclopedia with Treatment Options, Clinical Data, and Practical Information (Two CD-ROM Set) by U.S. Government, 2009-06-05
2009 Empowered Patient's Complete Reference to Phenylketonuria (PKU) - Diagnosis, Treatment Options, Prognosis (Two CD-ROM Set) by PM Medical Health News, 2009-06-05
Management of PKU
Treatment programs for PKU and selected other metabolic diseases in the United States: A survey (DHHS publication) by Virginia E Schuett, 1983
A journey into the world of PKU by Kenneth W Wessel, 1991
S.B. 3018: Mandatory screening tests for PKU (University of Washington. School of Law. Student papers) by David Ward, 1974

lists with details

D'Adamo Knowledge Base: The Blood Type Diet Online
D Adamo Knowledge Base. Bipolar disorder Pernicious anemia, Pharmacologic dose,Phenylketonuria (PKU). Phospholipids, Phosphorylation, Physiologic dose.
http://www.dadamo.com/glossary/glossary.cgi?word=Bi-polar_disorder
Newborn Screening
Phenylketonuria (PKU) a disorder where the liver does not produce enough of aparticular enzyme and cannot metabolise (breakdown) phenylalanine (one of the
http://www.betterhealthchannel.com.au/bhcv2/bhcarticles.nsf/pages/Newborn_screen
Genetic
Phenylketonuria (PKU) Phenylketonuria (PKU) is an inherited disorder. It occurswhen the body cannot break down a substance in food, called phenylalanine.
http://www.betterhealthchannel.com.au/bhcv2/BHCLang.nsf/(LevelThree)/CE1198810E0
Dreddyclinic.com - Phenylketonuria (PKU)
But that s the case for people with a rare genetic disorder known as phenylketonuria. The most severe form of the disorder is known as classic PKU.
http://dreddyclinic.com/findinformation/pp/phenylketonuria.htm

Extractions: Special Programs Study Programs Colon Cleansing One of the most frequent bowel problems that people experience today is constipation . Why is the Colon Cleansing so important? Check it out. Newsroom Pricelist for the treatments application form for the Ayurvedic courses You will need the free Acrobat Reader from Adobe to view and print some of the documents. Phenylketonuria PKU A B C D ... Z Phenylketonuria is a hereditary disorder in which the amino acid phenylalanine isn't properly metabolized. This amino acid occurs in significant amounts in all proteins, including breast milk, standard baby formulas, eggs, meat, fish and beans. People with PKU can't process phenylalanine because they lack an enzyme called phenylalanine hydroxylase (PAH). As a result, the amino acid can build up to dangerous levels in the blood and other tissues, causing mental retardation and other serious health problems.
Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannotbreak down a substance in food, called phenylalanine.
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Phenylketonuria_(
First Home-testing Device For Phenylketonuria (PKU) Patients
PKU is a genetic metabolic disorder in which the body lacks a liver enzyme (phenylalaninehydroxlase) needed to process phenylalanine, an essential amino
http://www.news-medical.net/?id=5982
Movement Disorder - Information & News
such selfmonitoring hasnt been possible for people with phenylketonuria (PKU). worsening of restless legs syndrome (RLS), a movement disorder that affects
http://www.news-medical.net/?keyword=Movement Disorder
Phenylketonuria (PKU)
Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by adefect in a specific protein an enzyme called phenylalanine hydroxylase (PAH)
http://www.dhss.mo.gov/Lab/Newborn/PKU.html

Extractions: Minimal. A protein feeding of 24 hours or greater is necessary for optimal screening results. The use of quantitative phenylalanine measurements increases the ability to detect PKU earlier in the babys life than previously used qualitative assays. Final Results Test Results Likely Causes Actions Normal No indication of a defect, see comment under section "Feeding/Timing Effect"
Introduction To The NIH Consensus Development Conference On Phenylketonuria (PKU
to the NIH Consensus Development Conference on Phenylketonuria (PKU) Screeningand Management PKU is a rare, inherited metabolic disorder that, if untreated
http://156.40.88.3/publications/pubs/pku/sub2.htm

Extractions: Introduction to the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream. All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage. Scientists are actively exploring nondietary treatments for PKU.
NIH Consensus Panel Recommends Comprehensive Approach To Life Long Care For PKU
Phenylketonuria (PKU) is an inherited disorder that, if untreated, causes profoundmental retardation as well as other medical problems.
http://156.40.88.3/new/releases/pku.cfm

Extractions: 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. Phenylketonuria (PKU) is an inherited disorder that, if untreated, causes profound mental retardation as well as other medical problems. The disorder, which affects about one of every 15,000 infants in the United States, usually results from a deficiency of an enzyme known as phenylalanine hydroxylase. This deficiency leads to elevated levels of the amino acid phenylalanine (Phe) in the bloodstream. Screening newborn infants for PKU is standard practice throughout many parts of the world. "As a result of the screening programs that began nearly 40 years ago, thousands of children with PKU have been identified and treated," said R. Rodney Howell, M.D. Chairman of the Consensus Panel. "Most of these children have grown into healthy adults when they would otherwise have developed mental retardation and other problems associated with PKU." The current treatment for PKU involves dietary modification and generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine. Bread and other wheat products also are excluded. The diet includes special Phe-free foods that supply nutrients that the restrictive food choices lack.
Phenylketonuria (PKU) - KP Genetics Northern California
Causes/Types. PKU is an inherited disorder. Although each parent carries one of thesemalfunctioning genes, they do not have the disorder themselves.
http://www.dor.kaiser.org/genetics/home/pku.htm

Extractions: Detailed Definition Proteins are made up of amino acids. Phenylalanine is an amino acid and is found in almost all foods that have protein. Everyone needs protein for growth and repair of body tissues, but the body cannot use the protein in food until it is broken down (metabolized) into smaller parts. This breakdown happens in stages. The first stage is when the body breaks down protein into amino acids, the building blocks of all proteins. For some purposes these amino acids can be used "as is," but for other jobs they need to be broken down further. The body uses a special enzyme called phenylalanine hydroxylase (PAH) to break phenylalanine down into tyrosine. The body then uses the tyrosine for many different things. Two of the most important uses of tyrosine are: (1) to make and repair the pathways that nerve impulses travel along (myelin sheaths) and (2) to produce the chemicals the body uses to communicate with itself (neurotransmitters). In most people with PKU the enzyme PAH is either missing or does not work well, so much of the phenylalanine cannot be broken down into tyrosine. Without enough tyrosine the nervous system cannot work correctly and the person can develop behavioral and intellectual problems.
Pku Clinic - OmniMedicalSearch.com - Pku Clinic
States, 19982000 States are screened for phenylketonuria (PKU),a metabolic disorder that when their metabolic clinic
http://www.omnimedicalsearch.com/query.php?pge=pku clinic
Phenylketonuria
Phenylketonuria PKU. PKU (phenylketonuria) is an inherited disorder of bodychemistry that, if untreated, causes mental retardation.
http://gunsmoke.ecn.purdue.edu/~kpasquet/project/pku.html
Birth Defects & Genetics: Common Forms Of Inheritance
Phenylketonuria (PKU), a metabolic disorder primarily affecting Caucasians.XLinked Recessive Inheritance The X and Y chromosomes
http://www.modimes.org/pnhec/4439_4136.asp

Extractions: If both parents are carriers of the same recessive gene that can cause a birth defect, there is a one-in-four chance that each of their children will inherit the problem. If only one parent passes on the gene for the disorder, the normal gene received from the other parent will prevent expression of the condition.
St.Vincent's Health
s). Phenylketonuria (PKU) A rare genetic disorder that can result in severeprogressive mental retardation if untreated by diet.
http://www.shannonhealth.com/adam/Ency_Article.asp?GenContentID=002438&Ency_Sear
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://63.88.172.131/healthnotes/healthnotes.cfm?ContentID=1247002
GEMdatabase - Browse Titles
Diagnosis and Management of Autistic Spectrum disorder in Children Phenylketonuria(PKU) Screening and Management (2000) Recommendations made after consensus
http://gemdatabase.org/GEMDatabase/BrowseTitles.asp?curpage=31
Children's National Medical Center - Children's Hospital Washington D.C. - Healt
Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in 10,000to 25,000 live births and is caused by the absence of the enzyme
http://cnmc.org/dcchildrens/forparents/GreystoneDisplay.aspx?GreystoneId=P02140
Urine Amino Acids
Examples of specific disorders that can cause abnormal test results includephenylketonuria (PKU). This disorder can cause severe mental retardation in the
http://198.72.3.232/healthencyclopedia/content/1032.asp

Extractions: This test is usually ordered when a healthcare provider suspects an inborn error of metabolism . These disorders can affect the level of certain amino acids in the urine. There are over 20 different amino acids. Each disorders can affects the level of different amino acids in the urine. This test is generally performed on infants and young children, because most of these disorders tend to cause symptoms shortly after birth.
Phenylketonuria
Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000births, but the incidence varies widely in different human populations from
http://www.websters-online-dictionary.org/definition/english/ph/phenylketonuria.

Extractions: Philip M. Parker, INSEAD. Phenylketonuria Definition: Phenylketonuria . A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency. Source: WordNet 1.7.1 Synonym: Phenylketonuria Synonym: PKU (n). ( additional references Top Specialty Definition: Phenylketonuria (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 usually is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. A rarer form of the disease occurs when PAH is normal but its cofactor tetrahydrobiopterin (BH ) is not synthesised by the patient. 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 mental retardation; low levels of tyrosine leads to lowered production of the pigment melanin, so children with this condition tend to be fair haired and blue eyed. The excess phenylalanine is converted instead into phenylketones, which are excreted in the urine - hence the name for this condition. The sweat and urine of an affected child has a musty odour due to these ketones.

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