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Phenylketonuria: more books (92)

Phenylketonuria
Management of newborn siblings of patients with phenylketonuria or galactosemia by George Martin Guest, 1963
Plasma lipoprotein cholesterol levels in children with phenylketonuria by Marion Taylor Baer, 1969
A Parent's Guide to Newborn Screening for Phenylketonuria, Congenital Hypothyroidism and Cystic Fibrosis
Management of newborn infants with phenylketonuria (DHEW publication)
Phenylketonuria (PKU) screening and management : January 1980 through July 2000, plus selected earlier citations : 3,394 citations (SuDoc HE 20.3516/2:2000-4) by Karen Patrias, 2000
Testing for phenylketonuria in Maine (Special education bulletin) by Rebecca Varney, 1965
Phenylketonuria: A selected bibliography, 1963 by Gladys M Krueger, 1964
Phenylketonuria and some other inborn errors of amino acid metabolism
A Parents' Guide to Newborn Screening for Phenylketonuria, Congenital Hypothyroidism and Cystic Fibrosis by Health Education Board for Scotland, 2002-12
Phenylketonuria: The link between diet therapy and cognitive development by Terri L Muench, 1993
An experimental investigation of some behavioral concomitants of phenylketonuria by F. J King, 1978
Biochemical aspects of phenylketonuria by Wayne D Fogle, 1974
Intravenous L-phenylaline loading in man: With special reference to detection of heterozygotes for phenylketonuria by S. RoÌˆdjer by S RoÌˆdjer, 1977

lists with details

Mild Phenylketonuria (PKU) General Overview
Frequently asked questions about Mild phenylketonuria PKU that briefly describes the bodys normal metabolic process, the different forms and effects.
http://www.doh.wa.gov/EHSPHL/PHL/Newborn/mildpkugo.htm

Extractions: You are here: DOH Home EHSPHL Home PHL Home NBS Home »Mild PKU General Overview Page Search Employees Site Directory: Mild Phenylketonuria (PKU) General Overview Page Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What should I know about Mild PKU? Below are some frequently asked questions. If the information contained on this page does not answer all of your questions or you would just simply like more information, please check out the Clinical Description Related Links pages or contact us with your specific question. (click here for printer friendly version of this information in pdf format) Please see the viewer page for free software to enable viewing of pdf files. What is phenylketonuria or PKU?
Phenylketonuria
Consensus Development Conference on phenylketonuria (PKU) Screening and Management, October 1618, 2000. Genetics and Public Health in the 21st Century.
http://www.healthatoz.com/healthatoz/Atoz/ency/phenylketonuria.jsp
Phenylketonuria: Definition And Much More From Answers.com
phen·yl·ke·to·nu·ri·a ( fen ?lket n-?r e-?, -y?r -, fe n?l- ) n. ( Abbr. PKU ) A genetic disorder in which the body lacks the enzyme.
http://www.answers.com/topic/phenylketonuria

Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Dictionary Encyclopedia Health Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping phenylketonuria Dictionary phenÂ·ylÂ·keÂ·toÂ·nuÂ·riÂ·a fÄn Él-kÄt n-Êr Ä-É, -yÊr -, fÄ nÉl- n. Abbr. PKU A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products. phen ylÂ·ke toÂ·nu ric Encyclopedia phenylketonuria fÄn ÉlkÄt ÉnÊr ) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. Most states have made the PKU blood or urine test mandatory for all newborn infants. Health phenylketonuria (fen-l-keet-n- oor -ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an
Phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 2001-05
phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 200105.
http://www.bartleby.com/65/ph/phenylke.html

Extractions: Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference Columbia Encyclopedia PREVIOUS NEXT ... BIBLIOGRAPHIC RECORD The Columbia Encyclopedia, Sixth Edition. phenylketonuria (f lk n KEY ) (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase). The absence of this enzyme, a recessive trait, prevents the body from making use of phenylalanine, one of the amino acids in most protein-rich foods, and almost always leads to mental retardation and schizoid changes; convulsions also commonly occur. Early diagnosis and treatment, which includes a carefully regulated low-phenylalanine diet begun during the first few weeks of life, may prevent serious mental deficiency. Positive improvement has been seen even when therapy is started in well-established cases. Most states have made the PKU blood or urine test mandatory for all newborn infants.
Phenylketonuria. The New Dictionary Of Cultural Literacy, Third Edition. 2002
phenylketonuria. The New Dictionary of Cultural Literacy, Third Edition. 2002.
http://www.bartleby.com/59/22/phenylketonu.html

Extractions: Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia Cultural Literacy World Factbook Columbia Gazetteer American Heritage Coll. Dictionary Roget's Thesauri Roget's II: Thesaurus Roget's Int'l Thesaurus Quotations Bartlett's Quotations Columbia Quotations Simpson's Quotations Respectfully Quoted English Usage Modern Usage American English Fowler's King's English Strunk's Style Mencken's Language Cambridge History The King James Bible Oxford Shakespeare Gray's Anatomy Farmer's Cookbook Post's Etiquette Bulfinch's Mythology Frazer's Golden Bough All Verse Anthologies Dickinson, E. Eliot, T.S. Frost, R. Hopkins, G.M. Keats, J. Lawrence, D.H. Masters, E.L. Sandburg, C. Sassoon, S. Whitman, W. Wordsworth, W. Yeats, W.B. All Nonfiction Harvard Classics American Essays Einstein's Relativity Grant, U.S. Roosevelt, T. Wells's History Presidential Inaugurals All Fiction Shelf of Fiction Ghost Stories Short Stories Shaw, G.B. Stein, G. Stevenson, R.L. Wells, H.G. Reference The New Dictionary of Cultural Literacy Medicine and Health PREVIOUS ... BIBLIOGRAPHIC RECORD The New Dictionary of Cultural Literacy, Third Edition. phenylketonuria (fen-l-keet-n- OOR -ee-uh) A hereditary disease that prevents the proper metabolism of phenylalanine, an
BBC - Health - Conditions - Phenylketonuria
A guide to phenylketonuria. phenylketonuria (PKU) is an inherited enzyme deficiency that, if not detected early, can result in brain damage.
http://www.bbc.co.uk/health/conditions/phenylketonuria1.shtml

Extractions: Send it to a friend! Dr Trisha Macnair Phenylketonuria (PKU) is an inherited enzyme deficiency that, if not detected early, can result in brain damage. What is it? What are the symptoms? What treatment is available? Who is affected? The enzyme phenylalanine hydroxylase normally converts an amino acid called phenylalanine (which is present in food proteins) into another called tyrosine. Phenylalanine is an essential amino acid - the body must have it to grow and function properly. But too much can be harmful, so the body regulates levels by converting it to tyrosine. In PKU, levels of the enzyme are low and only limited amounts can be converted to tyrosine, so phenylalanine can build up in the blood and other body tissues, particularly the brain, where it can cause severe and irreversible damage. If PKU is not detected early there is progressive development delay and severe learning difficulties. Epilepsy (fits) are common and other problems include eczema. Children typically have very fair hair, and the urine has a characteristic musty smell.
ScienceNOW -- Sign In
Currently, the main treatment for phenylketonuria is a strict diet low in phenylalanine. JOCELYN KAISER. Related site More info on phenylketonuria
http://sciencenow.sciencemag.org/cgi/content/full/2005/603/1

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Phenylketonuria
phenylketonuria hereditary metabolical disease. phenylketonuria (hereafter PKU) is a desease which developes because of the inborn error in a complex
http://www.fenilketonurija.hr/Engleski/Phenylketonuria.htm
Phenylketonuria (pku) Definition
phenylketonuria (pku). Definition. Search for. Glossary word, Glossary - def, Textbooks, Protocols, Images, Tools, Forum, PubMed, Links, Press Releases
http://www.biochem.northwestern.edu/holmgren/Glossary/Definitions/Def-P/phenylke

Extractions: phenylketonuria (pku) Definition: Search for: Glossary - word Glossary - def Textbooks Protocols Images Tools Forum PubMed Links Press Releases Biology Glossary search by EverythingBio.com A human metabolic disease caused by a mutation in a gene coding for a phenylalanine processing enzyme (phenylalanine hydroxylase), which leads to accumulation of phenylalanine and mental retardation if not treated; inherited as an autosomal recessive phenotype.
NORD - National Organization For Rare Disorders, Inc.
Synonyms of phenylketonuria. Classical phenylketonuria; Hyperphenylalanemia; PKU phenylketonuria (PKU) is an inborn error of metabolism that is
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Phenylketonur
Phenylketonuria (PKU)
phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by a defect 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"
Phenylketonuria (PKU)
phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot break down a substance in food, called phenylalanine.
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Phenylketonuria_(
Phenylketonuria Medical Information
phenylketonuria Information from Drugs.com. phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly
http://www.drugs.com/enc/phenylketonuria.html

Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Phenylketonuria test 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. PKU 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
AllRefer Health - Phenylketonuria (PKU)
phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups,
http://health.allrefer.com/health/phenylketonuria-info.html

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Utah Newborn Screening
Congenital Hypothyroidism Button Galactosemia Button Hemoglobinopathies Button phenylketonuria Button Statistics Button MSMS Pilot Study Button
http://www.health.utah.gov/newbornscreening/PKU.htm
Parenting A Child With Phenylketonuria
Information for parents on diagnosing, treating, and caring for a child with phenylketonuria.
http://specialchildren.about.com/od/phenylketonuria/

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Medical Issues Phenylketonuria Special Children Essentials Back to School Parenting How-To's ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Parenting Special Needs newsletter! See Online Courses Search Parenting Special Needs Information for parents on diagnosing, treating, and caring for a child with phenylketonuria. Alphabetical Recent Up a category Information on the disease from the ARC, an organization which advocates for people with mental retardation. Toddler Protocol: Phenylketonuria Outline of suggestions for doctors working with the families of PKU patients provides good ideas and resources, including a self-management timeline, games, and a cookbook. Children's PKU Network The non-profit organization sends out free packets of information to families of newly diagnosed children, offers scales for purchase, and provides links to food and formula suppliers. Dietary Information Booklets on the phenylalanine content of manufactured foods and baby foods, from the UK-based National Society for Phenlketonuria
Discovery Health :: Diseases & Conditions :: Phenylketonuria
phenylketonuria, which is also called PKU, is an inherited condition in which the body cannot process a substance called phenylalanine.
http://health.discovery.com/encyclopedias/illnesses.html?article=1692&page=1
Health News & Article - Phenylketonuria
Health Articles news about phenylketonuria and Clinical Trials Genetics Home Reference phenylketonuria news from National Library of Medicine
http://www.sl100.net/topic/topic/phenylketonuria/

Extractions: Health education or patient education is important aspect of disease management program. Even some programs, especially some chronic disease management can go further and introduced self-management for some aspect of illness. Good example is management of arthritis. There are a variety of models for both formal and informal self-management. However, the core concepts involve engagement in self-care, improved self-monitoring, interactions with healthcare professionals and coping with disease. Self-management programs are mostly provided to people with chronic diseases like arthritis, diabetes, and some skin diseases. Patient education and self-management programs are aim to improve the efficiency and quality of the healthcare process and overall improve quality of life. It is not really about reduction in doctor visits or clinic attendances. Even sometime, an improved healthcare process can include more frequent use of services because of improved compliance. In this website, you can find resources for articles about common health topics and news. New findings in the field are included some articles. Topics are categories in the alphabetical order and you can use Health Article Search Box to search the topic you want.
BBlue Diaper Syndrome And Phenylketonuria Maisa Haddad
phenylketonuria is an autosomal recessive gene also, so it would show up the Blue diaper syndrome and phenylketonuria are both inborn errors of amino
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/M Haddad.

Extractions: Blue diaper syndrome is an inborn error of amino acid metabolism. The amino acid tryptophan is malabsorped in the intestinal lining of newborn infants. The syndrome is known to be an autosomal recessive trait. It is believed that a mutation in the tryptophan transport protein causes a baby's diaper to turn blue once the urine touches the diaper. This was caused by the bacteria that acted on urine precursor's to produce a compound that turned indigo blue upon contact with air.Unfortenutely there was limited information on blue diaper syndrome , but there were other disorders that were caused by inborn error's of amino acid metabolism. One of interest and that was not limited on information was the phenylketonuria (PKU) disorder. This was also caused by inborn error's of amino acid metabolism. It is caused by the deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH).The amino acid phenylalanine is malabsorped because there is low concentration's of the PAH enzyme. Since there are low concentration of this enzyme , the amino acid is not being absorbed like it normally should. Therefore, there is an accumulation of the phenylalanine in the serum, which causes mental retardation in newborns. The difference with PKU is that there is lots of information on the disorder and actual experiments that have been done. An example is the RFLP hapotype analysis of the PAH locus in a German PKU family . A novel MspI site in one of the mutant alles was observed. The site was caused by a T to C transition in exon 9 of the gene and resulted in the substitution of leucine by proline at residue 311 of the protein (Konecki 2882). Mutagenesis and expression analyses have verified that the amino acid subsitution caused the lack of accumulation of the corresponding protein and the neucleotide substitution must represent a novel mutation in the PAH gene that causes PKU(konecki 2883). DNA sequencing of a fragment of the normal and mutant human PAH showed the T to C transition within the exon 9 gene.
Phenylketonuria (PKU) Facts
phenylketonuria (PKU) is a genetic disorder that causes the amino acid If you have a family history of phenylketonuria, talk with your health
http://aihc1998.tripod.com/pku.html

Extractions: Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood. This results in severe and irreversible mental retardation, especially in infants, if not treated early. There is little information available on the incidence of PKU. In the United States, research reports: Cause and Incidence In PKU, the child lacks or has very low levels of the enzyme phenylalanine hydroxylase (PAH). PAH is necessary to convert phenylalanine into another amino acid, tyrosine. If phenylalanine is not converted, it builds up in the bloodstream and disturbs the metabolism, resulting in mental retardation. Phenylalanine is a component of protein, so when protein is consumed, phenylalanine builds up in those people with PKU. At birth, babies with PKU have no signs or symptoms of the disorder because the mother's body filters out phenylalanine for her unborn baby before birth. Symptoms appear after the baby starts consuming protein (from either breast milk or formula), and the resulting phenylalanine builds up in his or her system, usually by a few months of age. If PKU is not treated, it usually causes progressively severe mental retardation and other problems affecting the nervous system. The baby will not be able to regain the lost mental ability.

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