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Phenylketonuria: more books (92)

Advances in Phenylketonuria Research (Developmental Brain Dysfunction)
Phenylketonuria Medical Guide by Qontro Medical Guides, 2008-07-09
Phenylketonuria: Special Issue: Annales Nestle (English Ed.) 2010, Vol. 68, No. 2
Development of a Combined Diagnostic System for Neonatal Screening of Phenylketonuria and Congenital Hypothyroidism (Commentationes Physico-mathematicae Et Chemico-medicae 148) by Tamara Tuuminen, 1993
Phenylketonuria: An entry from Thomson Gale's <i>Gale Encyclopedia of Science, 3rd ed.</i>
Skin Conditions Resulting From Errors in Metabolism: Phenylketonuria, Adrenoleukodystrophy, Gout, Porphyria, Lafora Disease, Alkaptonuria
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
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
The clinical team looks at phenylketonuria: Problems of the disease from the viewpoint of the biochemist, pediatrician, medical social worker, public health nurse, psychologist and nutritionist by United States. Children's Bureau, 1964-01-01
Dental health in children with phenylketonuria PKU and other inborn errors of amino acid metabolism managed by diet by Unknown, 1984-01-01
Pnas (Proceeding of the National Academy of Sciences) March 2, 1999: Potential New Treatment for Phenylketonuria; Osmosensory Transcription Factor by National Academy of Sciences, 1999
The child with phenylketonuria (NSMHC publications for parents and professionals) by J. B Holton, 1974
Phenylketonuria;: An inherited metabolic disorder associated with mental retardation (DHEW publication no) by Willard R Centerwall, 1972
Phenylketonuria and allied metabolic diseases

lists with details

E.S.PKU Homepage
The European Society for phenylketonuria and Allied Disorders is looking for stories about issues that PKU societies in different countries are dealing with at
http://www.espku.org/

Extractions: The European Society for Phenylketonuria and Allied Disorders is looking for stories about issues that PKU societies in different countries are dealing with at this moment. Maybe your PKU organisation is doing something special with or for PKU's? Or perhaps PKU-families in your country are struggling with taxes. We want to know all individual stories so we can publish the best.
Phenylketonuria (PKU)
Newborn Genetic Testing Home Newborn Genetic Screening Full Medical Reports phenylketonuria (PKU) phenylketonuria (PKU). PKU is caused
http://gslc.genetics.utah.edu/units/newborn/infosheets/PKU.cfm

Extractions: Home ... Full Medical Reports Phenylketonuria (PKU) PKU is caused by the lack of an enzyme that processes the amino acid phenylalanine. Phenylalanine is present in all protein foods such as meat, eggs and milk. Smaller amounts are also found in cereals, vegetables and fruits. In PKU, phenylalanine is not broken down and accumulates in the blood. Phenylalanine is toxic to the brain. Untreated individuals with PKU show progressive developmental delay in the first year of life, mental retardation, seizures, autistic-like behavior and a peculiar body odor. In PKU individuals, the phenylalanine hydroxylase gene on chromosome 12 is disrupted. This gene encodes the protein that processes the amino acid phenylalanine to reduce its level in the body. When the gene is mutated, phenylalanine builds up in the body. Autosomal recessive. 1 in 10,000 - 25,000. Incidence in the United States is 1 in 16,000 live births. PKU is rarely diagnosed before 6 months of age. After this, mental retardation is apparent.
Www.ddhealthinfo.org - Medical Care Information
and Cause. phenylketonuria (PKU) is a metabolic disorder inherited as an autosomal recessive trait. phenylketonuria Background. back to top.
http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5166
Phenylketonuria - Information / Diagnosis / Treatment / Prevention
home rare disorders phenylketonuria phenylketonuria. Information Genes and Diseases phenylketonuria Brief genetic information. ? Medline
http://www.healthcyclopedia.com/rare-disorders/phenylketonuria.html
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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Phenylketonuria
MAIN SEARCH INDEX. phenylketonuria. 1st ed. New York Pantheon Books, 2001. Schuett, Virginia E. Low Protein Cookery For phenylketonuria.
http://www.ehendrick.org/healthy/001053.htm

Extractions: Resources Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a class of diseases referred to as "hyperphenylalaninemia," all of which involve above normal (elevated) levels of phenylalanine in the blood. The primary symptom of untreated PKU, mental retardation , is the result of consuming foods that contain the amino acid phenylalanine, which is toxic to brain tissue. PKU is an inherited, autosomal recessive disorder. It is the most common genetic disease involving "amino acid metabolism." PKU is incurable, but early, effective treatment can prevent the development of serious mental incapacity. PKU is a disease caused by the liver's inability to produce a particular type of PAH enzyme. This enzyme converts (metabolizes) the amino acid called phenylalanine into another amino acid, tyrosine. This is the only role of PAH in the body. A lack of PAH results in the buildup of abnormally high phenylalanine concentrations (or levels) in the blood and brain. Above normal levels of phenylalanine are toxic to the cells that make up the nervous system and causes irreversible abnormalities in brain structure and function in PKU patients. Phenylalanine is a type of teratogen. Teratogens are any substance or organism that can cause birth defects in a developing fetus.
Bbc.co.uk - Health - Conditions A-Z Phenylketonuria
AZ Illnesses and Conditions. phenylketonuria By Dr Trisha Macnair. phenylketonuria(PKU) is an inherited enzyme deficiency. The enzyme
http://www.bbc.co.uk/health/conditions/phenylketonuria.shtml

Extractions: Phenylketonuria(PKU) is an inherited enzyme deficiency. 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. Harmful effects of PKU can be avoided by starting a special low-phenylalanine diet as soon as possible after birth. As phenylalanine is found in many proteins, protein rich foods such as meat must be avoided and 'safe' proteins (usually specially formulated substitutes) taken instead. This diet should be followed long-term - the brain is only damaged while still growing and developing but there is some debate about what age it is safe to stop the diet at. It is important that women with PKU follow the diet while pregnant, or they risk exposing their unborn child to high levels of the amino acid (this can lead to miscarriage, birth defects and brain damage in the child even if they haven't inherited PKU themselves).
Phenylketonuria - Health And Medical Information: Diseases And Conditions, Medic
phenylketonuria Main Index. Terms Related to phenylketonuria phenylketonuria; PKU. phenylketonuria Related Medications. (No articles currently available),
http://www.medicinenet.com/Phenylketonuria/article.htm

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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.
ORPHANET® : Phenylketonuria, Atypic
ORPHANET. Orphanet database access. phenylketonuria, atypic. Direct access to data ORPHANET. Orphanet database access. phenylketonuria. Direct access to data
http://www.orpha.net/static/GB/phenylketonuria.html
Phenylketonuria: Screening And Management.
GUIDELINE TITLE. phenylketonuria screening and management. Equal access to treatment for all individuals with phenylketonuria is highly desirable.
http://www.guideline.gov/summary/summary.aspx?doc_id=2716
Maternal Phenylketonuria.
GUIDELINE TITLE. Maternal phenylketonuria. BIBLIOGRAPHIC SOURCE(S). American Academy of Pediatrics, Section on Genetics. Maternal phenylketonuria.
http://www.guideline.gov/summary/summary.aspx?doc_id=2777&nbr=2003
Phenylketonuria: The Basics Of PKU On The Net
talking to medical professionals. Hopefully, you will leave with with a clearer understanding of phenylketonuria, or PKU. This is the
http://www.fesoc.com/pku/

Extractions: PKU is a birth defect caused by a recessive gene found in both parents. It involves a lack of a specific enzyme needed to break down the protein known as phenylalanine. Excess levels of this protein are found in PKU patients, and when untreated, can lead to brain damage. Fortunately, it is fully treatable by a special diet, and can be detected in patients by a simple blood test. These pages have been designed and put together for a school project, with the purpose help further the viewers knowledge of PKU. The information expressed within is a collection of information from other pages (accessible through LINKS ), brought together here to make it easier to understand and faster to browse through. Please understand that a complete picture of PKU cannot be shown here alone, and must be built by looking at many sites, and talking to medical professionals. Hopefully, you will leave with with a clearer understanding of Phenylketonuria, or PKU.
Disease Directory : Rare Disorders : Phenylketonuria
AllRefer Health phenylketonuria (PKU) - phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk
http://www.diseasedirectory.net/Rare_Disorders/Phenylketonuria/default.aspx

Extractions: Alstrom Syndrome ... Rare Disorders : Phenylketonuria AllRefer Health - Phenylketonuria (PKU) - Phenylketonuria (PKU) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups Children's PKU Network - Organisation offering education and direct assistance. Includes details of projects, plus links to food suppliers. Definition of phenylketonuria - WordReference.com Dictionary - phenomenon phenothiazine phenotype phenoxide phenoxy resin phenyl phenylalanine phenylamine phenylbutazone phenylketonuria phenytoin pheromone phew phi phial eMedicine - Phenylketonuria : Article by Djordjije Karadaglic, MD ... - Phenylketonuria - Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylketonuria. Last Updated: July 21, 2003, eMedicine - Phenylketonuria : Article by Georgianne L Arnold, MD - Phenylketonuria - Phenylketonuria (PKU) is an inborn error of protein metabolism that results from an impaired ability to metabolize the essential amino acid Genes and Diseases: Phenylketonuria - Brief genetic information.
Dr. Nathan Pregnancy Glossary Of Terms
Dr. Nathan Pregnancy Glossary of Terms Search for a Term. phenylketonuria. A phenylalanine. Individuals with phenylketonuria (PKU) lack an enzyme, phenylalanine hydroxylase.
http://www.babyzone.com/drnathan/P/Phenylketonuria.htm

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Phenylketonuria (PKU)
phenylketonuria (PKU). phenylketonuria (PKU) is an inherited disorder caused by the absence of a substance (enzyme) the body needs
http://www.meritcare.com/hwdb/_followLink.asp?sgml_id=stp1354
Phenylketonuria - Genetics Home Reference
Genetic disorder catalog. phenylketonuria. What is phenylketonuria? How common is phenylketonuria? PKU is found in about 1 in 10,000 Caucasian (white) newborns.
http://ghr.nlm.nih.gov/condition=phenylketonuria

Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Phenylketonuria Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the blood. If PKU is not treated, excess phenylalanine can cause mental retardation and other serious health problems. Phenylketonuria is a subtype of hyperphenylalaninemia The symptoms of this disorder vary from mild to very severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent mental retardation and behavioral problems. Seizures, delayed development, and movement disorders are also common. Many children have a musty or "mouse-like" odor as a side effect of too much phenylalanine in the body. Children with classic PKU tend to have lighter skin and hair than unaffected family members, because phenylalanine is important for skin pigmentation. Children with the disorder are also likely to have skin disorders such as eczema.
Phenylketonuria Management
phenylketonuria Background phenylketonuria (PKU) is among the most common metabolic disorders; it is inherited as an autosomal recessive trait.
http://www.meadjohnson.com/metabolics/phenylketonuria.html

Extractions: Indianapolis, IN Phenylketonuria (PKU) is among the most common metabolic disorders; it is inherited as an autosomal recessive trait. PKU occurs in approximately 1 in 12,000 births and, although panethnic, is most common among persons of white Western European background. Phenylketonuria results from deficient activity of the enzyme phenylalanine hydroxylase ( PAH ), which normally converts the amino acid phenylalanine ( phe ) to the amino acid tyrosine ( tyr ). Untreated PKU patients have elevated body fluid levels of phe and phe metabolites (i.e. phenylacetic acid and phenylpyruvic acid), which are also known as phenylketones hence the name for the disorder. Elevated levels of phenylalanine appear to interfere with brain growth and nerve myelination, resulting in psychomotor handicaps, increased reflexes and motor tone, seizures, autistic-like behaviors, phobias and other psychological problems, and a distinctive "dysmyelination" on magnetic resonance imaging. A distinctive "mousy" body odor results from increased levels of phenylacetic acid, and eczematoid rashes may also occur.
Phenylketonuria - Medical Dictionary Definitions Of Popular Medical Terms
phenylketonuria The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or nearcomplete deficiency of the
http://www.medterms.com/script/main/art.asp?articlekey=4869
Phenylalanine Hydroxylase Locus Knowledgebase Web Site
Some cause phenylketonuria, others cause nonPKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant
http://www.pahdb.mcgill.ca/

Extractions: Welcome to the PAH db World Wide Web site This site is run with the following aim: To provide users with access to up-to-date information about mutations at the phenylalanine hydroxylase locus. Here you will have access to the content of the database in the form of electronic reports. The database is updated manually off-line by the curators to assure that no erroneous information is appended. The curators now also accept data electronically via the submission form. For a better synopsis of the site's function, please read the PAHdb Knowledgebase Abstract Mutations in the phenylalanine hydroxylase ( PAH ) gene, the majority of which result in deficient enzyme activity and cause hyperphenylalaninemia, occur in all 13 exons of the gene and flanking sequence. Some cause phenylketonuria, others cause non-PKU hyperphenylalaninemia, while still others are silent polymorphisms present on both normal and mutant chromosomes. Some PAH alleles are present at elevated frequencies; 5 account for approximately 60% of European mutations and they tend to cluster in regions or are on only one of a few haplotypes. Several hundred mutations as well as three-fold greater mutation associations have been recorded. The majority of changes are missense mutations, although splice, nonsense and silent mutations, as well as single base-pair frameshifts, and larger deletions and insertions have been found.

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