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Phenylketonuria:     more books (92)

OVERCOMING A BAD GENE: The story of the discovery and successful treatment of Phenylketonuria, a genetic disease that causes mental retardation by Seymour Kaufman, 2004-12-08 Phenylketonuria - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-02-13 Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01 Phenylketonuria by frank lyman, 1963-01-01 The Official Parent's Sourcebook on Phenylketonuria by James N. Parker, Icon Health Publications, 2002-07 Phenylketonuria: Webster's Timeline History, 1934 - 2007 by Icon Group International, 2009-06-06 Phenylketonuria and some other inborn errors of amino acid metabolism: biochemistry, genetics, diagnosis, therapy Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria Low Protein Cookery for Phenylketonuria by Virginia E. Schuett, 1997-08-15 21st Century Complete Medical Guide to Phenylketonuria (PKU), Authoritative Government Documents, Clinical References, and Practical Information for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-06 Phenylketonuria Phenylketonuria Detection in Newborn Infant As a Routine Hospital Procedure by Robert Guthrie, Stewart Whitney, 1965 Alzheimer's-like symptoms reversible in PKU patients. (phenylketonuria): An article from: Medical Update Phenylketonuria; A Selected Bibliography by United States. Children's Bureau, 2010-03-26

lists with details

1. MedlinePlus Medical Encyclopedia: Phenylketonuria
   Definition, causes, symptoms and treatment.  
   http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
   
   Extractions: @import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Phenylketonuria test Phenylketonuria test Alternative names Return to top PKU Definition Return to top 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. Causes, incidence, and risk factors Return to top 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 central nervous system and cause brain damage.

2. PHENYLKETONURIA (PKU)
   Definition, causes, symptoms and treatments.  
   http://www.medhelp.org/lib/pku.htm
   
   Extractions: DEFINITION: INCIDENCE: Classic PKU and the other causes of hyperphenylalaninemia affect about one of every 10,000 to 20,000 Caucasian or Oriental births. The incidence in African Americans is far less. These disorders are equally frequent in males and females. CAUSE: PKU and the other causes of hyperphenylalaninemia are inherited in a recessive fashion. This means an affected person inherited two traits for the disorder (e.s., one from each parent). A person with one trait for the disorder, is called a 'carrier' for PKU. Carriers do not have symptoms of the disorder. SYMPTOMS: TREATMENT: 475/476 04 Aug 91 08:04:2 Attr: to reinstitute the PKU diet after a period of 'relaxation' to a regular diet, has been difficult for many individuals. Periodic phenylalanine blood level measurement, and the guidance of a nutritionist and other members of the health care team, allow individuals and families to work toward consistently maintaining the blood level in the desirable range. Fever and illness can cause normal body proteins to break down, the liberation of the body's own amino acids, and thus, a rise of the blood phenylalainine level. The physician and nutritionist can suggest dietary changes to help maintain levels in the desirable range during illness. Medical follow-up often involves periodic developmental screening. This checks for the expected normal development over time, and allows early recognition and intervention for problems.

3. Phenylketonuria
   Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI),  
   http://www.ncbi.nlm.nih.gov/disease/Phenylketo.html
   
   Extractions: Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid. Mutations in both copies of the gene for PAH means that the enzyme is inactive or is less efficient, and the concentration of phenylalanine in the body can build up to toxic levels. In some cases, mutations in PAH will result in a phenotypically mild form of PKU called hyperphenylalanemia. Both diseases are the result of a variety of mutations in the PAH locus; in those cases where a patient is heterozygous for two mutations of PAH (ie each copy of the gene has a different mutation), the milder mutation will predominate.

4. PHENYLKETONURIA (PKU)
   phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. OMIM - PHENYLKETONURIA
   http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=261600

6. Home Page
   The National Society for phenylketonuria. Click on the link below to go to the new website. www.nspku.org  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. PKULife.com
   Software designed to benefit those managing the PKU (phenylketonuria) diet.  
   http://www.pkulife.com
   
   Extractions: Get All Links ForMyDiet.com subscribes to the HONcode principles of the Health On the Net Foundation. Verify here Children's Corner School Lunch Ideas Summer is over, now you are back in school. Fun times to learn about new things in the new grade. I know some of you are probably saying school is not fun. But it really is. You have to think of all the new things your teacher is teaching you, it may also be old things but it should be exiting for you to learn. The more...

8. National PKU News
   Organisation providing information and news to families and professionals. Includes general information about the condition, dietary advice  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. MedlinePlus: Phenylketonuria
   phenylketonuria. Overviews; phenylketonuria (Mayo Foundation for Medical Education and Research); phenylketonuria (PKU) Interactive Tutorial (Patient  
   http://www.nlm.nih.gov/medlineplus/phenylketonuria.html

10. BIOMARIN PHARMACEUTICAL INC.
    Researches and develops therapies for debilitating, fatal, chronic genetic disorders causing enzyme deficiency of carbohydrate metabolism, such as phenylketonuria. Headquarters in Novato, California. (Nasdaq BMRN).  
    http://www.biomarinpharm.com/

11. Pku Or Phenylketonuria Is A Metabolic Disorder As Is
    PKU or phenylketonuria is a metabolic disorder related to hyperphenylalaninemia. PKU Network is a nonprofit organization offering newborn screening  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Phenylketonuria
    Brief genetic information.  
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.

13. NSPKU Home
    What is the National Society for phenylketonuria (NSPKU)? The NSPKU exists to help and support people with PKU, their families and carers.  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Phenylketonuria (PKU)
    phenylketonuria is one of the commonest inherited disorders occurring in approximately 1 in 10000 babies born in the US It occurs in babies who inherit  
    http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/P/Phenylketonuria.html
    
    Extractions: Phenylketonuria (PKU) Phenylketonuria is one of the commonest inherited disorders - occurring in approximately 1 in 10,000 babies born in the U. S. It occurs in babies who inherit two mutant genes for the enzyme phenylalanine hydroxylase PAH ). This enzyme normally breaks down molecules of the amino acid phenylalanine that are in excess of the body's needs for protein synthesis. Because we inherit two copies of the gene for the enzyme, both must be defective to produce the disease. A laboratory test that measures how quickly an injection of phenylalanine is removed from the blood can distinguish a person who has one PKU gene from a person who has none, but the person with one is perfectly healthy because the unmutated allele produces enough of the enzyme. However, these heterozygous individuals are "carriers" of the disease. The phenylalanine tolerance test. A short time after administering a measured amount of phenylalanine to the subject, the concentration of phenylalanine in the blood plasma is measured. The level is usually substantially higher in people who carry one PKU gene (even though they show no signs of disease) than in individuals who are homozygous for the unmutated gene. Both parents must be heterozygous (i.e., must be "carriers" of the trait) to produce a child with PKU. The chance of their doing so is 1 in 4.

15. Phenylketonuria (PKU) Pediatric Oncall
    Indepth look at phenylketonuria (PKU). Includes symptoms, diagnosing, newborn screening, treatment and follow up.  
    http://www.pediatriconcall.com/fordoctor/diseasesandcondition/pku.asp
    
    Extractions: Forgot password Dr. Swati Kolpuru, DCH. INTRODUCTION Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated levels of phenylalanine and phenylalanine metabolites. PKU is inherited as an autosomal recessive trait. The mutation that causes PKU is located on chromosome 12. The specific type of mutation varies, resulting in variable severity in the clinical course of the disorder. Newborn screening is very important for the diagnosis of this disease and has largely eliminated mental retardation caused by this disease. SYMPTOMS Symptoms in newborn Symptoms are usually absent May be abnormally drowsy or listless Feeding difficulty Light hair, skin and eyes

16. Phenylketonuria (PKU) / Family Village Library
    phenylketonuria (PKU)  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Medical References: PKU
    PKU (phenylketonuria) is an inherited disorder of body chemistry that, Undiagnosed maternal phenylketonuria the need for prenatal selective screening  
    http://www.marchofdimes.com/professionals/681_1219.asp

18. Tuxes For Tia - Black Tie Dinner & Auction
    A fund raising event for PKU research on behalf of the Piziali Family Foundation for PKU. Learn about phenylketonuria.  
    http://www.tuxesfortia.com

19. Medical References PKU
    Maternal phenylketonuria. Committee Opinion, number 230, January 2000. Hanley, W.B., et al. Undiagnosed maternal phenylketonuria the need for  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. National PKU News: News And Information About Phenylketonuria
    phenylketonuria (PKU) / Family Village LibraryLearn More About It * Web Sites * Search Google for phenylketonuria MEDLINEplus phenylketonuria phenylketonuria article and bibliography from OMIM  
    http://www.pkunews.org/

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