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         Phenylketonuria-pku Disorder:     more detail
  1. Treatment programs for PKU and selected other metabolic diseases in the United States: A survey (DHHS publication) by Virginia E Schuett, 1983
  2. University of Washington. School of Law. Student papers by David Ward, 1974
  3. A journey into the world of PKU by Kenneth W Wessel, 1991

21. 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

22. 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

23. 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

24. 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
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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.

25. 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_(

26. 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

27. Movement Disorder - Information & News
such selfmonitoring hasn’t 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

28. 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
DHSS Home State Home Ask Us Home ... Contact Us breadCrumbs("main",">>","index.htm","crumb","crumb","crumb","0");
Phenylketonuria (PKU)
Prevalence: Analytes Measured: Phenylalanine (Quantitative) Reporting Results:
  • Normal:
    The final newborn screening reports are mailed to the submitter and physician of record.
  • Borderline: 3.0-4.9 mg/dL
    Final PKU results are phoned to the physician/health care provider and faxed. Final newborn screening reports are mailed by certified mail to the submitter and physician of record.
  • Positive: 5.0 mg/dL or greater
    Final PKU results are phoned to the physician/health care provider and faxed. Final newborn screening reports are mailed by certified mail to the submitter and physician of record.
Feeding/Timing Effect:
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 baby’s 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"

29. 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
Home Search Sitemap Contact ... Report of the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management
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.

30. 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
Home Search Sitemap Contact ... News Releases October 18, 2000
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.

31. 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
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.

32. 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

33. 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

34. 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
View All Chapters Find Your Local Chapter September 24, 2005
Before You're Pregnant

During Your Pregnancy

Complications

Caring for Your Baby
...
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Common Forms of Inheritance Common Forms of Inheritance
Each child has two copies of every gene in its body, with one copy coming from each parent. Genes in each pair carry instructions for either dominant or recessive traits. Sometimes the genes are altered in some way, and a medical disorder results.
Autosomal Dominant Inheritance
If a parent has the gene for an autosomal dominant condition, there is a 50 percent chance (a one-in-two chance) that each child will have the same condition. Dominant disorders often are quite variable, with symptoms ranging from none to severe.
Some conditions passed on through autosomal dominant inheritance are:
  • Familial high cholesterol
  • Huntington disease, a progressive nervous system disorder
  • Some forms of glaucoma, which cause blindness if untreated
  • Polydactyly: extra fingers or toes
  • Marfan syndrome , which affects connective tissue (connective tissue supports and connects structures of the body; tendons, ligaments, cartilage and bone are examples of connective tissue)
Autosomal Recessive Inheritance 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.

35. 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

36. 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

37. 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

38. 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

39. 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
urine amino acids
Alternative Names

amino acids, urine
Definition
This is a test to measure the level of amino acids in the urine. Amino acids are the building blocks that combine to form proteins.
Who is a candidate for the test?
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.
This test may also be done to monitor persons with known amino acid disorders.
How is the test performed?
To perform this test, a urine sample is needed. A person is asked to supply urine in a special container. Advice on how to get a urine sample from an infant is provided if needed. The urine sample is taken to a lab for testing.
What is involved in preparation for the test? Generally, no preparation is needed. The healthcare provider will give instructions if needed.

40. 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.
Philip M. Parker, INSEAD.
Phenylketonuria
Definition: Phenylketonuria
Phenylketonuria
Noun
. 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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