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Phenylketonuria:     more books (92)

Dietary management of inherited metabolic disease: Phenylketonuria, galactosemia, tyrosinemia, homocystinuria, maple syrup urine disease by Phyllis B Acosta, 1976 A guide for the family of the child with phenylketonuria: The Ross metabolic formula system by Phyllis B Acosta, 1994 PKU phenylketonuria: A guide to dietary management by Richard Koch, 1981 Overcoming a Bad Gene: The story of the discovery and successful treatment of Phenylketonuria by Seymour Kaufman, 2004-01-01 The resource mothers program for maternal phenylketonuria by Paula Shaw St. James, 1999 ^1H NMR-based metabonomics for the diagnosis of inborn errors of metabolism in urine [An article from: Analytica Chimica Acta] by M.A. Constantinou, E. Papakonstantinou, et all 2005-06-29 Gene and Environment: An entry from Macmillan Reference USA's <i>Macmillan Reference USA Science Library: Genetics</i> by William K. Scott, 2003 Amino Acid Disorders Screening: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Tish, A.M. Davidson, 2006 DISEASE: METABOLIC DISEASES: An entry from Charles Scribner's Sons' <i>Encyclopedia of Food and Culture</i> by Lewis A. Barness, 2003 Counsel Patients to Follow Strict PKU Diet for Life.(Brief Article): An article from: Family Practice News by Mary Ann Moon, 2000-12-01 New technology may expand newborn screening: the committee is recommending routine screening of 29 of the 78 conditions that they analyzed.(Clinical Rounds): An article from: Pediatric News by Mark S. Lesney, 2005-04-01 Application of nuclear magnetic resonance spectroscopy combined with principal component analysis in detecting inborn errors of metabolism using blood ... [An article from: Analytica Chimica Acta] by M. Constantinou, E. Papakonstantinou, et all 2004-05-31 Restricted Diet Essential for Maternal PKU Patients.: An article from: Family Practice News by Maureen Donohue, 2000-02-15 How Darwinian reductionism refutes genetic determinism [An article from: Studies in History and Philosophy of Biol & Biomed Sci] by P.M. Rosoff, A. Rosenberg,

lists with details

81. Phenylketonuria - The Genetics
    An overview of the gentical aspects of phenylketonuria inheritance, mutations, diagnosis and biochemical defects, Roberts, Roberts, mobile, disco, UK,  
    http://www.willroberts.com/pku/
    
    Extractions: Phenylketonuria, abbreviated to PKU, is a disease caused by a common inherited disorder in the way our body processes proteins. The problem lies in an enzyme which converts phenylalanine, an amino acid into another amino acid, tyrosine. The consequence of this is that phenylalanine builds up in the body to high levels. This is a state called hyperphenylalaninaemia, it can be caused by diseases other than PKU. The good news is that if diagnosed early the effects of this disorder can be greatly reduced by removing phenylalanine from the diet of newborn babies. This has lead to the introduction of extensive screening programs in the UK and other countries, and the number of people suffering the effects of PKU has greatly decreased. There is also evidence that hyperphenylalaninaemia in pregnant mothers with PKU may cause 'maternal phenylketonuria' which results in symptoms in the child similar to those in PKU irrespective of the child's PKU status.

82. Phenylketonuria In Children - Keep Kids Healthy
    A discussion of the causes of jaundice, or an orange yellow skin color in children, and its treatments.  
    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.

83. Newborn Screening Case Management - Phenylketonuria (PKU)
    Newborn Screening Case Management phenylketonuria (PKU)Home Page.  
    http://www.dshs.state.tx.us/newborn/pku.shtm
    
    Extractions: Instructions for sample collection of dried blood spots for phenylalanine monitoring ... 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. Application for Formula Assistances If you are a resident of the State of Texas and not eligible for private insurance, CSHCN, Medicaid, WIC, or CHIP, you may be eligible for financial assistance with PKU formula. Please complete the Application for Assistance with Metabolic Formula in

84. Phenylketonuria Definition - Medical Dictionary Definitions Of Popular Medical T
    Online Medical Dictionary and glossary with medical definitions.  
    http://www.medterms.com/script/main/art.asp?articlekey=4869

85. Welcome To NHS Direct Online
    NHS Direct Online Health Encyclopaedia. phenylketonuria phenylketonuria (PKU) is an inherited metabolic disorder which prevents the normal breakdown of  
    http://www.nhsdirect.nhs.uk/en.asp?TopicID=355

86. FamilyFun: Health Dictionary: Phenylketonuria (PKU)
    An excerpt on phenylketonuria (PKU) from the Disney Encyclopedia of Baby and Child Care.  
    http://familyfun.go.com/parenting/child/health/childhealth/dony89enc_phen/
    
    Extractions: This is a dangerous but treatable hereditary condition affecting one out of 10,000 children. Until recent decades, children with PKU always suffered brain damage and mental retardation. Now, however, the disease usually is detected and treated by means of a special diet before such damge can occur. All infants born in the United States routinely undergo blood tests to diagnose PKU. If the test shows phenylketonuria, treatment is initiated immediately, in most cases preventing the serious, permanent effects of the disease. The newest concern regarding PKU is the prevention of complications in the children of women who have been treated for the condition. WHAT CAUSES PKU? PKU results from an excess of an amino acid called phenylalanine , which is essential to the body's normal growth and development. Too much phenylalanine, however, damages the central nervous system. Phenylalanine is present in high protein foods. After the body has absorbed enough for its needs, an enzyme normally converts some phenylalanine to tyrosine, another essential amino acid; in PKU, however, that vital enzyme is absent or insufficient, so conversion to tyrosine does not take place. Instead, unused phenylalanine builds up in the bloodstream. The danger is greatest during the first year of life, when the brain is still developing. However, even if PKU develops later (which may happen if the child abandons the special diet), brain damage will occur.

87. Phenylketonuria - PKU - NewbornScreening.Com
    Classical phenylketonuria is a disorder in which the blood phenylalanine With early treatment, symptoms of classical phenylketonuria are preventable.  
    http://www.newbornscreening.com/cms/Phenylketonuria_PKU.shtml
    
    Extractions: Choose from the below list. Australia Japan India Philippines -US States Alabama Alaska Arizona Arkansas California Colorado Connecticut Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Lousiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennessee Texas Utah Vermont Virginia Washington D.C. Washington State West Virginia Wisconsin Wyoming The cause of hyperphenylalaninemia must be determined if proper treatment is to be provided. Treatment by dietary restriction alone is inadequate for a tetrahydrobiopterin cofactor defect. The cofactor is necessary not only for normal activity of phenylalanine hydroxylase, but also for activity of the tyrosine and tryptophan hydroxylase which synthesize serotonin and dopamine.

88. HSC - Safety - Aspartame And Phenylketonuria (PKU)
    Classical phenylketonuria (PKU) is an inherited disorder that occurs in about one in 15000 people. Those affected lack a particular enzyme and are unable to  
    http://www.dsm.com/en_US/html/hsc/Aspartame-and-phenylketonuria.htm
    
    Extractions: values ... How to find us Aspartame and phenylketonuria (PKU) Classical phenylketonuria (PKU) is an inherited disorder that occurs in about one in 15,000 people. Those affected lack a particular enzyme and are unable to metabolise the natural amino acid phenylalanine that is present in many foods. People with PKU are unable to process phenylalanine as quickly as normal, and this results in high concentrations of phenylalanine in their blood. If this is not discovered and treated at birth (with a low-phenylalanine diet), the person will develop severe mental retardation. Normally, a tiny blood sample is taken from all newborn babies to test for PKU. If positive, the child must be put on a low-phenylalanine diet under medical supervision. Because phenylalanine is an essential amino acid it cannot be entirely eliminated. Such a diet continues through early adolescence, at which time the brain development has been completed and the diet can be relaxed. Phenylalanine is present in all protein food, such as milk, eggs, fish and nuts, and it is also a component of the sweetener aspartame (

89. Phenylketonuria (PKU) - Preliminary Draft
    What is phenylketonuria, and how is it treated? phenylketonuria, better known 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).

90. Phenylketonuria (PKU) Clinic
    phenylketonuria (PKU) is a genetic condition that occurs in 1 out of 15000 people males and females. It interferes with the breakdown of phenylalanine,  
    http://www.chw.org/display/PPF/DocID/3590/router.asp
    
    Extractions: Phenylketonuria (PKU) is a genetic condition that occurs in 1 out of 15,000 people - males and females. It interferes with the breakdown of phenylalanine, a normal part of protein. Too much phenylalanine can affect brain development and lead to mental retardation. Individuals with PKU can be treated with a low-phenylalanine diet and lead completely normal, healthy lives.

91. Phenylketonuria (PKU)
    phenylketonuria (PKU) Updated April 4, 2004 phenylketonuria Your Genes, Your Health Flash application; Phenylkentonuria and Pregnancy Part 1 General  
    http://www.noah-health.org/en/genetic/conditions/pku.html

92. Phenylketonuria
    Delicious Living Magazine s Website provides news, answers and information regarding natural and alternative health and integrative medicine, with detailed  
    http://www.deliciouslivingmag.com/healthnotes/healthnotes.cfm?org=nh&lang=EN&Con

93. Toddler Protocol: Phenylketonuria - PKU Clinic - University Of Washington, Seatt
    Home About the Clinic What is PKU? For Health Care Providers Contact Us Site Map. Toddler Protocol phenylketonuria. Back to Toddler Index  
    http://depts.washington.edu/pku/pro_info/protocols/tod-pro1.html
    
    Extractions: Back to Toddler Index OBJECTIVE 1: Provide family with understanding of PKU and skills for effective PKU management. Objective Methods Materials Parents will become familiar with the self management timeline and identify tasks during the 2-3 years age. Discuss the self-management timeline. Continue to discuss PKU diagnosis and management during clinic visits Child will be introduced to the concept of "yes" and "no" foods at meals, in the grocery store, etc. Family, including older siblings, will talk about "yes" and "no" foods. Child will be able to identify "yes" and "no" foods. Discuss the concept of "yes" and "no" foods with parents and child at clinic visit and follow-up phone calls. Games That Teach

94. FIRSTConsult - Sdfdsf
    FIRSTConsult, phenylketonuria (Medical Condition File). Published for medical students and primary healthcare providers by Elsevier.  
    http://www.firstconsult.com/?action=view_article&id=1010035&type=101&bref=1

95. APPENDIX 5. THE HISTORY OF NEWBORN PHENYLKETONURIA SCREENING IN THE U.S.
    phenylketonuria (PKU) is a rare genetic disorder, with an incidence in the US, Even early and well treated individuals with phenylketonuria often have  
    http://biotech.law.lsu.edu/research/fed/tfgt/appendix5.htm
    
    Extractions: Public Health Law Online Courses Legal Topics Search Site ... Final Report of the Task Force on Genetic Testing Phenylketonuria (PKU) is a rare genetic disorder, with an incidence in the U.S., Britain, and most of Western Europe of between 1 in 11,000 and 1 in 15,000 births. Virtually all newborns are tested for it in every American state, Canada, Australia, New Zealand, Japan, the nations of Western and most of Eastern Europe, and many other countries throughout the world. Normally, such a rare condition would not attract such attention, but PKU is a treatable genetic disease. In the past, it generally resulted in severe mental retardation and behavioral and other abnormalities. About 90 percent of those affected had IQs of less than 50. The symptoms of the disease result from a deficiency in a liver enzyme that catalyzes the conversion of phenylalanine (an essential amino acid that cannot be synthesized by humans) to tyrosine. In the absence of therapy, phenylalanine accumulates to toxic levels in the blood. Fortunately, mental retardation can be prevented and other symptoms mitigated if newborns are placed on a special diet from which most of the phenylalanine has been removed. Thus, PKU screening provides an attractive example to proponents of genetic medicine and has come to be considered the "epitome of the application of human biochemical genetics," and a model for genetic medicine and public health. Its appeal is partly explained by the dearth of other examples of effective interventions for genetic disorders. In general, advances in genetic knowledge have not been matched by corresponding progress in treatment (resulting in a "therapeutic gap").

96. Phenylketonuria, Atypic
    Base de données sur les maladies rares et les médicaments orphelins.  
    http://www.orpha.net/static/GB/phenylketonuria.html

97. Phenylketonuria (PKU) From PerkinElmer - USA
    phenylketonuria (PKU). NeoGram MS2 PKU Reagent Kit NeoGram MS2 PKU Reagent Kit in USA NeoGram MS2 PKU Reagent Kit - outside USA  
    http://las.perkinelmer.com/Catalog/default.htm?CategoryID=Phenylketonuria [PKU]

98. Newborn Screening Program - Phenylketonuria
    phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine  
    http://www.idph.state.il.us/HealthWellness/fs/pku.htm
    
    Extractions: Phenylketonuria (PKU) is a disorder of amino acid metabolism that results in excess levels of phenylalanine in body fluids. Elevated levels of phenylalanine can become neurotoxic; early detection and treatment of hyperphenylalaninemia is necessary to prevent mental retardation. Although infants with PKU usually appear normal at birth, early symptoms may include skin rash, seizures, excessive restlessness, irritable behavior and a musty odor of the body or urine. Later signs include developmental delays, gait disturbances and mental retardation. Recently in Illinois, tandem mass spectrometry (MS/MS) has been implemented to provide newborn screening for PKU and hyperphenylalaninemia. This new laboratory technology has replaced the fluorometric analysis previously utilized for PKU screening. Although false positive and false negative results are possible with this screening, MS/MS should provide a more reliable screening method for the detection of elevated phenylalanine levels in dried blood samples, even in infants who have not yet received nutritional intake. As with all newborn screening, specimen collection should occur as soon as possible, but after the first 24 hours of life. When receiving a presumptive positive result (elevated phenylalanine level), the clinician should

99. Dietary Interventions For Phenylketonuria (Cochrane Review)
    Abstract of a systematic review of the effects of health care prepared by the Cochrane Collaboration.  
    http://www.update-software.com/Abstracts/AB001304.htm
    
    Extractions: From The Cochrane Library, Issue 3, 2005 Dietary interventions for phenylketonuria (Cochrane Review) Poustie VJ, Rutherford P ABSTRACT What's new in this issue Search abstracts Browse alphabetical list of titles Browse by Review Group 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 treated with dietary restriction of the amino acid phenylalanine. The diet is initiated in the neonatal period to prevent mental handicap; however, it is restrictive and can be difficult to follow. Whether the diet can be relaxed or discontinued during adolescence or should be continued for life remains a controversial issue, which we aim to address in this review. Objectives: To assess the effects of a low-phenylalanine diet commenced early in life for people with phenylketonuria. To assess the possible effects of relaxation or termination of the diet on intelligence, neuropsychological outcomes and mortality, growth, nutritional status, eating behaviour and quality of life. Search strategy: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group trials register comprising references identified from comprehensive electronic database searches, handsearches of relevant journals and abstract books of conference proceedings. Most recent search of the Group's trials register: April 2004.

100. Phenylketonuria - YourDictionary.com - American Heritage Dictionary
     Search Mamma.com for phenylketonuria . TYPE IN YOUR WORD CLICK GO! Search. Normal, Definitions, Short defs. (Pronunciation Key)  
     http://www.yourdictionary.com/ahd/p/p0242200.html

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