Geometry.Net - Health_Conditions: Phenylketonuria

Phenylketonuria (PKU)
NiemannPick Disease. phenylketonuria (PKU). Prader-Willi Syndrome. Urea Cycle Defects.phenylketonuria (PKU). This area will soon contain updated information.
http://www.vanhosp.bc.ca/html/wellness_amdc_findout_pku.html
The Children's Hospital At Westmead - Professionals - Phenylketonuria (PKU)
phenylketonuria (PKU). This disorder is caused when a baby's body cannotbreakdown the amino acid, phenylalanine, which is in protein.
http://www.chw.edu.au/prof/services/newborn/pku.htm

Extractions: Gene Therapy ... Phenylketonuria (PKU) This disorder is caused when a baby's body cannot breakdown the amino acid, phenylalanine, which is in protein. PKU is a rare condition due to a recessively inherited deficiency of the enzyme phenylalanine hydroxylase. If the baby is detected by NBS and given a diet low in phenylalanine (very low protein plus a special formula) there will be normal growth and development. Untreated PKU causes severe mental deficiency, which can be avoided if treatment is started in the first weeks of life. Although severe mental deficiency is usual in untreated cases, occasional asymptomatic adults are found with normal or near normal intelligence. Overall, PKU occurs in about 1 in 10,000 babies born in NSW. There are several intermediate forms of hyperphenylalaninaemia in which the plasma phenylalanine levels are lower. At present we advocate treatment if phenylalanine levels in the untreated baby are 400 umol/L or more. In about 1% of cases of high blood phenylalaninaemia, the hyperphenylalaninaemia is caused by enzyme defects of biopterin metabolism. These patients need different treatment. Definitive tests can differentiate these variant forms of PKU. In view of the severity of this group of diseases, all infants with persistently abnormal levels of phenylalanine should be tested by analysis of the Dihydropteridine reductase activity in the blood spot. As well, urine tests for biopterin should be performed at the Biochemistry Department.
PKU-online, Information About Phenylketonuria
Nederlandse versie PKU diet management program for Windows It'sFREE !! With the help of this program it is easy to determine
http://www.wtb.tue.nl/woc/ptc/vanesch/pku/index_eng.html

Extractions: Nederlandse versie With the help of this program it is easy to determine the phenylalanine content of food. It is primarily developed as a tool for people who do not have the daily care of (small) children, like family and friends. The program is kept simple to use. Currently, there is a Dutch version as well as an English, an Austrian, and an Italian version. The Dutch version has a database with over 600 products and online help-information. The Italian version contains roughly 300 products. The English version contains the database provided by the US Dept. of Agriculture with 2500 different products! The Austrian version (in German) has the possibility to search for products by brand name. The database can however be modified or extended at will by the individual user.
Health Library: All Topics: P: Phenylketonuria - Healthfinder®
phenylketonuria (PKU) Also available in Spanish This public health education informationfact sheet provides general information about this genetic disorder
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=653
Phenylketonuria
phenylketonuria Alternative Names PKU, phenylalanine hydroxylase deficiency Definitionphenylketonuria, which is also called PKU, is an inherited condition in
http://atoz.iqhealth.com/HealthAnswers/encyclopedia/HTMLfiles/1692.html

Extractions: Phenylketonuria is caused by an enzyme defect in the liver. Normally, the liver produces an enzyme that breaks down phenylalanine. Phenylalanine is a compound found in many foods. The liver of a person with phenylketonuria does not produce this enzyme. When this happens, phenylalanine and its by-products build up in the body. This leads to mental retardation
Phenylketonuria. The Columbia Encyclopedia, Sixth Edition. 2001
phenylketonuria. (f n´´ lk t´´ n r´ ) (KEY) (PKU), inherited metabolic disordercaused by the absence of a specific enzyme (phenylalanine hydroxylase).
http://www.bartleby.com/65/ph/phenylke.html

Extractions: Select Search All Bartleby.com All Reference Columbia Encyclopedia World History Encyclopedia 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 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 In Children - Keep Kids Healthy
phenylketonuria. by Barb Durso, MD. phenylketonuria (PKU) is a hereditary diseasethat, if left untreated, can cause mental retardation and seizures.
http://www.keepkidshealthy.com/welcome/conditions/phenylketonuria.html

Extractions: Recommend Us tell a friend about us or email this page to a friend Main Diseases and Conditions by Barb Durso, MD Phenylketonuria (PKU) is a hereditary disease that, if left untreated, can cause mental retardation and seizures. Because early intervention with the use of a special formula and diet can prevent these problems, almost all states in the United States screen all newborns for this condition. Related Topics Newborn Screening Phenylalanine is an essential amino acid that is obtained from proteins in the diet. When proteins containing phenylalanine are eaten, this amino acid is used to build other proteins. Whatever is taken in and not used is normally eliminated by the body. In persons with PKU, phenylalanine cannot be eliminated normally. In so-called classic PKU , the affected child is missing an enzyme known as phenylalanine hydroxylase. Other types of PKU involve deficiencies of other enzymes, in particular, tetrahydrobiopterin.
KLUWER Academic Publishers | Carbohydrate And Glycoprotein Metabolism; Maternal
Carbohydrate and Glycoprotein Metabolism; Maternal phenylketonuria Journalof Inherited Metabolic Disease Review Issue, 134, 1990. Add to cart.
http://www.wkap.nl/prod/b/0-7923-8947-6

Extractions: The articles in Issue 4 of the Journal of Inherited Metabolic Disease Vol. 13 (1990) contain the main lectures presented at the 27th Annual Meeting of the Society for the Study of Inborn Errors of Metabolism, Munich, 1989, which was dedicated to `Inherited Disorders of Carbohydrate and Glycoprotein Metabolism' and was preceded by a Workshop on `Maternal Phenylketonuria'.
Metabolic Disorders, Including Phenylketonuria (PKU)
treatment, management, counseling and family support for inherited inborn errorsof metabolism, including phenylketonuria, homocystinuria, galactosemia and
http://wwwdocdb.uchc.edu/genetics/MetabolicDisorders.html

Extractions: CONNECTICUT CHILDREN'S MEDICAL CENTER Genetic Inborn Errors of Metabolism Service Role of Service The Genetic Inborn Errors of Metabolism Service provides diagnostic evaluation of metabolic disorders that are detected by the Connecticut State Newborn Screening Program, or by other evaluations. The Division of Human Genetics is a designated treatment and management center in Connecticut. Referrals are made by the primary care physician following notification by the State Newborn Screening Program. Our program provides diagnostic confirmation and treatment, management, genetic counseling and family support. In addition, individuals who relocate to Connecticut are referred to our service. Services Offered Confirmatory diagnosis, treatment, management, counseling and family support for inherited inborn errors of metabolism, including phenylketonuria, homocystinuria, galactosemia and maple syrup urine disease. We provide in-depth evaluations, patient literature, group parent meetings and family events (including an annual CT Family PKU Weekend). We assist in obtaining insurance coverage for treatment. Comprehensive consultation reports are provided to the referring health care provider and the family. Management is provided for infants, children and adults, including pregnant women with PKU. Where To Call Telephone 860-545-9580
Short Description Of Cell Lines. Pathology Phenylketonuria I *
Version 4.200205, Short description of cell lines. Pathology phenylketonuriaI *261600 OMIM record. By selecting the cell line
http://www.biotech.ist.unige.it/cldb/pat183.html
Phenylketonuria (PKU)
phenylketonuria (PKU). phenylketonuria, or PKU, occurs when a baby is born withlow levels or a complete lack of the enzyme phenylalanine hydroxylase.
http://www.lebanonhealth.com/condi/90920.htm

Extractions: Phenylketonuria (PKU) Phenylketonuria, or PKU, occurs when a baby is born with low levels or a complete lack of the enzyme phenylalanine hydroxylase. Without this enzyme, an amino acid called phenylalanine cannot be broken down. Phenylalanine accumulates throughout the body, ultimately causing brain damage and severe mental retardation. Luckily, PKU can be treated through controlling the amount of phenylalanine that is taken in through the diet. PKU is most common in people of Northern European or Asian ancestry. It is relatively rare in people of African ancestry. Symptoms There are no symptoms in early infancy, except possibly excess drowsiness (lethargy), poor feeding and vomiting. If diagnosis and treatment do not start in the first few weeks of life, symptoms begin, including: Mental retardation (slow learning) Eczema (skin problems) Seizures Severe hyperactive behavior (see ADD Unusual musty or mousy smell of urine Small head size (microcephaly) Dental and jaw abnormalities Lighter-colored skin, hair and eyes compared to their unaffected brothers and sisters
English Definition Of Phenylketonuria - WordReference.com
Source The Collins English Dictionary © 1998 HarperCollins Publishers phenylketonuriafi na lki t nju r n. a congenital metabolic disorder characterized
http://www.wordreference.com/english/definition.asp?en=phenylketonuria
Phenylketonuria Or PKU
Some information about PKU. From suetheob@aol.com (Sue theo b) Newsgroupsrec.food.cooking Subject Re PKU ? Go to this web
http://www.rci.rutgers.edu/~molbio/pku.html

Extractions: >PKU diets.... any good books out there -Jennifer A terrible fate. People with PKU have to eat a synthetic diet, free of phenylalanine, which is akin to baby formula. No chocolate, no meat, none of the wonderful things in life. There's an even worse fate. There's a term called "atypical PKU" which is a catch-all phrase covering several different diseases that look like PKU but do not respond to a phenylalanine-free diet. This includes an assortment of defects of metabolism, all of which are very rare, some of which are represented in the medical literature by only one person. I am reminded of a little girl in mainland China who is the only person known to have a defective GTP hydroxylase enzyme. If she's still alive (which I doubt), she'd be in her late teens or early twenties. It would be an interesting segment for the TV news (interesting to me, anyway) if someone would follow up on what happened to her. Many forms of atypical PKU can be treated with experimental drugs, at enormous expense. These are forms in which pteridine synthesis is blocked. Pteridines are fundamental molecules for both neurotransmitter synthesis and the immune system. There have been a few trials of supplementing the diet with pteridines for these people, and it does work, but it doesn't work very well. You still have to supplement with L-dopa, because the pteridines do not penetrate the nervous system very well.
Dietary Interventions For Phenylketonuria (Cochrane Review)
Dietary interventions for phenylketonuria (Cochrane Review). Citation Poustie VJ,Rutherford P. Dietary interventions for phenylketonuria (Cochrane Review).
http://www.update-software.com/abstracts/ab001304.htm

Extractions: From The Cochrane Library, Issue 1, 2003 Dietary interventions for phenylketonuria (Cochrane Review) Poustie VJ, Rutherford P ABSTRACT Order full review View and/or submit comments What's new in this issue Search abstracts ... About The Cochrane Library A substantive amendment to this systematic review was last made on 04 May 1999. Cochrane reviews are regularly checked and updated if necessary. Background: Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine. The diet has to be initiated in the neonatal period to prevent or reduce mental handicap however the diet is very restrictive and unpalatable and can be difficult to follow. Whether the diet can be relaxed or discontinued during adolescence or should be continued for life remains a contraversial issue which we aim to address in this review. Objectives: To assess the effects of a phenylalanine restricted diet commenced early in life for patients with phenylketonuria. To assess the possible adverse effects of relaxation or termination of the diet on intelligence, neuropsychological outcomes and mortality, and to assess the effect on growth, nutritional status and eating behaviour and quality of life. Search strategy: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Trials Register which is a specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. Additional studies were identified from handsearching the Journal of Inherited Metabolic Disease (from inception, 1978 to 1998). The manufacturers of dietary products for phenylketonuria were also contacted.
Dietary Interventions For Phenylketonuria (Cochrane Review)
Dietary interventions for phenylketonuria (Cochrane Review). The manufacturersof dietary products for phenylketonuria were also contacted.
http://www.cochrane.org/cochrane/revabstr/ab001304.htm

Extractions: Abstract from The Cochrane Library , Issue 1, 2003 Click here to order the full review Poustie VJ, Rutherford P ABSTRACT A substantive amendment to this systematic review was last made on 04 May 1999. Cochrane reviews are regularly checked and updated if necessary. Background: Phenylketonuria is an inherited disease for which the main treatment is the dietary restriction of the amino acid phenylalanine. The diet has to be initiated in the neonatal period to prevent or reduce mental handicap however the diet is very restrictive and unpalatable and can be difficult to follow. Whether the diet can be relaxed or discontinued during adolescence or should be continued for life remains a contraversial issue which we aim to address in this review. Objectives: To assess the effects of a phenylalanine restricted diet commenced early in life for patients with phenylketonuria. To assess the possible adverse effects of relaxation or termination of the diet on intelligence, neuropsychological outcomes and mortality, and to assess the effect on growth, nutritional status and eating behaviour and quality of life. Search strategy: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Trials Register which is a specialist trials register which comprises references identified from comprehensive electronic database searches, handsearching relevant journals and handsearching abstract books of conference proceedings. Additional studies were identified from handsearching the Journal of Inherited Metabolic Disease (from inception, 1978 to 1998). The manufacturers of dietary products for phenylketonuria were also contacted.
Phenylketonuria (PKU)
phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannotbreak down a substance in food, called phenylalanine. phenylketonuria (PKU).
http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Phenylketonuria_(
Advanced Respiratory - Airway Clearance Indications Of Congenital Phenylketonuri
, Reimbursed by more than 1,100 health plans nationwide. Airway ClearanceIndications of Congenital phenylketonuria (PKU), Print Version.
http://www.thevest.com/conditions/factsheets/congenpku.asp?gs=patients
GGRC - Medical Care Information
phenylketonuria Background. BACKGROUND. back to top. phenylketonuria (PKU)is a metabolic disorder inherited as an autosomal recessive trait.
http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5166
Phenylketonuria
phenylketonuria Alternative Names PKU, phenylalanine hydroxylase deficiency Definitionphenylketonuria, which is also called PKU, is an inherited condition in
http://www.jewishhospital.org/healthinfo/encyclopediaHTML/1692.html

Extractions: Phenylketonuria is caused by an enzyme defect in the liver. Normally, the liver produces an enzyme that breaks down phenylalanine. Phenylalanine is a compound found in many foods. The liver of a person with phenylketonuria does not produce this enzyme. When this happens, phenylalanine and its by-products build up in the body. This leads to mental retardation

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