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Phenylketonuria-pku Disorder: more detail

21st Century Ultimate Medical Guide to Phenylketonuria (PKU) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News, 2009-06-05
Phenylketonuria (PKU) Toolkit - Comprehensive Medical Encyclopedia with Treatment Options, Clinical Data, and Practical Information (Two CD-ROM Set) by U.S. Government, 2009-06-05
2009 Empowered Patient's Complete Reference to Phenylketonuria (PKU) - Diagnosis, Treatment Options, Prognosis (Two CD-ROM Set) by PM Medical Health News, 2009-06-05
Management of PKU
Treatment programs for PKU and selected other metabolic diseases in the United States: A survey (DHHS publication) by Virginia E Schuett, 1983
A journey into the world of PKU by Kenneth W Wessel, 1991
S.B. 3018: Mandatory screening tests for PKU (University of Washington. School of Law. Student papers) by David Ward, 1974

lists with details

Powdered Drink To Treat TD
multiple food protein intolerance, Periflex and Phlexy10, both medical foods forthe dietary management of phenylketonuria (PKU), another disorder which leads
http://nutraingredients.com/news/news-ng.asp?id=35441-powdered-drink-to
* Pku - (Disease): Definition
Therefore, even though the condition is relatively rare, most newborns arescreened. phenylketonuria (PKU) A rare inherited disorder.
http://en.mimi.hu/disease/pku.html

Extractions: Home Menu(0); pozicio('Disease','Pku') MimiF1("Disease",0); See also: Disease Phenylketonuria Treatment Diet ... Infant CreateTd(0) PKU is a treatable disease that can be easily detected by a simple blood test. Most states require a screening test for all newborns, generally done with a heelstick shortly after birth callurl('http://health.allrefer.com/health/phenylketonuria-info.html');
Angels In The News: Unlocking A Bizarre Disorder
months old for cystic fibrosis, cerebral palsy, deafness, gastrointestinal problems,spinal meningitis, nervous system disorders and phenylketonuria (PKU).
http://home.earthlink.net/~julhyman/angelarticles/whitney.htm

Extractions: Unlocking A Bizarre Disorder By Susan Duerksen, staff writer Reprinted from the San Diego Union-Tribune, April 18, 1992 Whitney Evans shook with glee at the sight of her father. Grinning and laughing happily, she threw her arms around his neck and clambered onto his lap. A few minutes later, after romping around the room and hugging her sister, she returned to her father with a huge grin and embraced him again and again. He'd done nothing special to deserve the attention-Whitney needs no particular reason for joy. Excessive happiness, in her case, is a symptom of illness. It's among the least troubling of the characteristics caused by a rare neurological disorder called Angelman Syndrome, a list that ranges from severe mental retardation, an inability to speak, and seizures to fair coloring, love of water, hyperactivity and puppet-like movements. Whitney has had Angelman Syndrome since her birth almost 11 years ago. Her parents, Mark and Alice Evans of Del Mar, had never heard of it until two months ago. After years of uncounted medical tests and evaluation by every kind of specialist, the Evanses still had no idea what was wrong with their daughter until they read what appeared to be a description of her condition in a newspaper story. The story was about another girl, also named Whitney, the daughter of California Angels relief pitcher, Bryan Harvey. Around the same time, geneticists at UCSD were searching pictures of Whitney's genes for a clue to her strange behavior, peering hard at a fuzzy area on chromosome 15. Within a day or two, they confirmed the family's diagnosis of Angelman Syndrome, discovered in 1965 by a British physician, Dr. Harry Angelman.
Columbia Weill Cornell Neuroscience Centers
One of the most common metabolic disorders in children is a disorder known asphenylketonuria (PKU), a hereditary disorder in which the body lacks an enzyme
http://www.nypneuro.org/healthinfo/pediat1.html

Extractions: [an error occurred while processing this directive][an error occurred while processing this directive] Epilepsy, a group of brain disorders that cause recurrent seizures, is common in children and adolescents. In fact, nearly one-third of people diagnosed with epilepsy each year are children. For more information, please see our epilepsy page. One of the most common metabolic disorders in children is a disorder known as phenylketonuria (PKU), a hereditary disorder in which the body lacks an enzyme needed to eliminate excess amounts of an amino acid called phenylalanine. The buildup of this amino acid in the blood stream often leads to severe mental retardation. Recognizing symptoms and diagnosing PKU Newborns rarely shown signs of PKU, although some infants with the disorder may be lethargic and have difficulty feeding. Infants with PKU may have lighter-colored hair, skin, and eyes than other family members, as well as a rash similar to infantile eczema (MM pp. 2396). Older children may develop reflex problems, seizures, extreme hyperactivity, and psychoses. In addition, children with PKU may have a distinct body odor due to the elimination of excess phenylactic acid in urine and sweat.
Phenylketonuria (PKU)
Phenylketonuria (PKU) Phenylketonuria (PKU) is a rare genetic disorder that resultsin excessive accumulation of the amino acid, phenylalanine, and reduced
http://www.vitadigest.com/phenylketonuria.html

Extractions: www.vitadigest.com 6-OXO, Estrogen Blockers, 60 Capsules, 6 OXO, From Ergopharm 6OXO Ogoplex Pure Extract - The Ultimate Male Experience, 30 Tablets Low As $22.50 Each Strixaderm MD, Anti-Wrinkle Stretch Mark Removal Cream, 6 oz, Compare to Strivectin SD, Strixaderm-MD ... Section P Phenylketonuria (PKU) Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino acid, L-tyrosine, in the blood. If untreated, high levels of phenylalanine can cause severe mental retardation, behavioral disturbances, and other brain and nerve problems. Fortunately, newborn screening programs now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions. Gene therapy is currently being researched as a possible cure. Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes and amino acids.
Before It S Too Late
Phenylketonuria (PKU) Inability to digest an amino acid found in many foods. Sicklecell/hemoglobinopathies Blood disorder that causes severe anemia
http://www.courierjournal.com/features/health/2003/03/hf-front-testing0306-12400
Pediatric Advisor 11.0 Autism And Pervasive Developmental
Autistic disorder has been found in children with brain abnormalities such presentwith genetic syndromes such as fragile X syndrome and phenylketonuria (PKU).
http://merckmedicus.com/pp/us/hcp/hcp_patient_resource_allhandouts_content_searc
ComDig - Complexity Theory, Science Of Complexity News Digest
For instance already today in the US newborn babies are routinely checked forphenylketonuria (PKU) a disorder based on a defect in a single gene that can lead
http://www.comdig2.de/test/topic.php?id_article=230
NORD - National Organization For Rare Disorders, Inc.
to providing information and support to people with phenylketonuria (PKU), theirfamilies, and their caregivers. PKU is a metabolic disorder characterized by
http://www.rarediseases.org/search/orgdetail_full.html?org_name=National Society
Amino Acid Disorders Screening
Amino acid disorder screening is done in newborns, and sometimes children and adults,to One of the best known examples of this is phenylketonuria (PKU).
http://lifesteps.com/gm/Atoz/ency/amino_acid_disorders_screening.jsp
Aussie Bodies: Page Not Found
Home Glossary PQR Phenylketonuria (PKU), A genetic disorder in which the bodylacks the enzyme necessary to metabolize phenylalanine to tyrosine.
http://www.aussiebodies.com.au/glossary/q p r/7f3cbe39-db6a-4d6c-a15a-15c343e6b8
Aultman Health Foundation
Phenylketonuria (PKU) a genetic disorder of the enzyme that breaks downphenylalanine, which is an amino acid found in certain foods.
http://aultman.com/getcontent.asp?token=1d537d68-21b9-492d-8709-ca854fdf1337&chu
Do Children Benefit From Newborn Genetic Screening ?
disorder, Effects. Phenylketonuria (PKU), An inability to process phenylalanine(a protein component), which can lead to brain damage and mental retardation.
http://www.mercyhealthsystem.com/observances/january/article2.html

Extractions: Screening newborns for metabolic disorders began in the 1960s, with a screening test for phenylketonuria, a condition that can lead to mental retardation if left untreated. Over the years, separate screening tests for other metabolic disorders were developed. More recently, researchers have developed tandem mass spectrometry, which is capable of screening for multiple disorders with one sample of blood. The table below lists the most commonly screened disorders: Disorder Effects Phenylketonuria (PKU) An inability to process phenylalanine (a protein component), which can lead to brain damage and mental retardation. Hypothyroidism A hormone deficiency that slows growth and development. Galactosemia An inability to process galactose (a milk sugar), which can cause infant death, blindness, or mental retardation Sickle Cell Anemia A blood disease that causes pain, damage to vital organs, and sometimes death. Congenital adrenal hyperplasia (CAH) A hormone deficiency that affects genital development, and can disturb kidney function and cause death
Other Developmental Disorders
Phenylketonuria (PKU). PKU is an inherited metabolic disorder in which the bodycannot metabolize the amino acid phenylalanine that is present in many common
http://firstsigns.org/delays_disorders/other_disorders.htm

Extractions: HOME CONTACT US SITE MAP FAQ ... Screening Other Developmental and Behavioral Disorders Although developmental and behavioral disorders are increasingly widespread, they are still poorly understood by most of society. The lack of knowledge is further compounded by the stigma that often accompanies a diagnosis of a developmental or behavioral disorder. Parents and physicians can educate themselves and others about the range of disorders, as well as the opportunities for treatment and intervention. Whether a child has a developmental delay or disorder, early identification and intervention are essential for achieving the best possible outcome. The most common developmental disorder is mental retardation. According to the CDC , more than one out of every 100 school children in the United States has some form of mental retardation. Cerebral palsy is the second most common developmental disorder, followed by autism spectrum disorders. The following list outlines different types of developmental and behavioral disorders, provides a brief description for each, and identifies Web sites that may serve as an introductory resource for parents. Select a Developmental Disorder Attention-Deficit Disorder (ADD)/Attention-Deficit Hyperactivity Disorder (ADHD) Angelman Syndrome Autism and Other Pervasive Developmental Disorders Bipolar Disorder Central Auditory Processing Disorder (CAPD) Cerebral Palsy Down Syndrome Expressive Language Disorder Fragile X Syndrome IsoDicentric 15 Landau-Kleffner Syndrome
Genetic Disorders Forum - Phenylketonuria (PKU) Symptoms
Genetic Disorders Forum, Jump to Select a forum. All times are GMT 5 Hours. Page 1 of 1. Genetic Disorders sitemap.
http://ehealthforum.com/health/subject80_210340_symptoms.html

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Mild Phenylketonuria (PKU) General Overview
Q. What is phenylketonuria or PKU? A. Phenylketonuria (PKU) is a treatabledisorder that affects the way the body processes protein.
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?
Newborn Screening Disorders
Currently Washington screens for six disorders phenylketonuria (PKU), congenitalhypothyroidism (CH), congenital adrenal hyperplasia (CAH), hemoglobinopathies
http://www.doh.wa.gov/ehsphl/phl/newborn/disorders.htm

Extractions: You are here: DOH Home EHSPHL Home PHL Home NBS Home »Disorders Search Employees Site Directory: Disorders Disorders Health Professional's Page Parents Page Related Links ... Contact NBS What disorders are screened for in Washington? Currently Washington screens for nine disorders: phenylketonuria (PKU), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), hemoglobinopathies (HB), biotinidase deificiency, galactosemia, homocystinuria, Maple Syrup Urine Disease (MSUD) and Medium Chain Acyl co-A Dehydrogenase Deficiency (MCADD). This screening is mandated by statute (Chapter 70.83 RCW) with regulations adopted by the State Board of Health (Chapter 246-650 WAC) . Although not mandated, a routine second newborn screen is recommended for all infants between 7 and 14 days of age as a standard of medical practice to optimize disease detection for all infants. Use the links below to find out more about each disorder. Phenylketonuria (PKU) General Overviews Clinical Description Related Links PKU Fact Sheet ... Mild PKU Congenital Hypothyroidism (CH) General Overview Clinical Description Related Links CH Fact Sheet Congenital Adrenal Hyperplasia (CAH) General Overview Clinical Description Related Links CAH Fact Sheet Hemoglobinopathies (HB) General Overview Clinical Description Related Links Sickle Cell Fact Sheet Biotinidase Deficiency General Overviews Clinical Description Related Links Biotinidase Deficiency Fact Sheet ... Partial Biotinidase Deficiency Galactosemia General Overviews Clinical Description Related Links Galactosemia Fact Sheet ... Mild Galactosemia Homocystinuria
Phenylketonuria
Genes and disease provides short descriptions of inherited disorders. It is hostedby 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.
Glossary
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z phenylketonuria (PKU) disorderthat is present when an infant does not have an enzyme necessary for the
http://www.lamaze.com/tools/glossary/0,,176132,00.html
Newborn Screening
Acid Disorders Homocystinuria (HCU) Hypermethioninemia Maple Syrup Urine Disease(MSUD) Nonketotic Hyperglycinemia (NKH) Phenylketonuria (PKU) Tyrosinemia
http://trose.20m.com/NBS/nbs.html

Extractions: The newborn screening test (NBS) is often is referred to as the "PKU" test, but the NBS test screens for more than just PKU. It tests babies for between 3 and 8 hereditary disorders. The test is done to find out if your baby has inherited a disorder for which early treatment can prevent death or mental retardation. It is very important that your baby is tested as soon as possible. Even parents who have no family history of these disorders, or who have already had healthy children can still have children with these disorders. In fact, most children with these disorders come from families with no previous history of the condition. The NBS blood test is performed by pricking your baby's heel and putting a few drops of blood on a special filter paper. The paper is sent to the laboratory where several tests are performed. The results are then sent to your hospital and doctor. If the test shows abnormal results, you will be notified and given directions on what to do. Follow the directions carefully. Usually additional tests will be necessary to determine if your child has the disorder.

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