1. 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

2. 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

3. NIH Consensus Statements 113. Phenylketonuria Screening And Classical phenylketonuria (PKU) is a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Phenylketonuria Phenylketonuria PKU PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Disorders Phenylketonuria. Tyrosinemia. Urea Cycle Disorders. All of the disorders listed above have a common thread. Each disorder is a metabolic disorder http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Phenylketonuria (PKU) - Health A Z - Women's And Children's Health Disorder PHENYLKETONURIA (PKU) Alternative names Phenylalanine hydroxylase (PAH) deficiency, Hyperphenylalaninaemia http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. BBlue Diaper Syndrome And Phenylketonuria Maisa Haddad One of interest and that was not limited on information was the phenylketonuria (PKU) disorder. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Medical References PKU PKU. PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. 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

10. NSPKU - What Is Phenylketonuria (PKU) What is Phenylketonuria? Phenylketonuria (PKU) is a genetic disorder which prevents the normal use of protein food. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. PHENYLKETONURIA (PKU) Phenylketonuria (PKU) is a genetic disorder that is characterized by an A person with one trait for the disorder, is called a carrier for PKU. http://www.medhelp.org/lib/pku.htm

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: QM v1.23/b Origin: St Joseph's Medical Center Phoenix (602) 235-9653 (1:114/15.0) 475/476 04 Aug 91 08:04:2 From: grx0644@uoft02.utoledo.edu To: All Subj: 02/PKU Fact Sheet 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.

12. Disorders Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine Phenylketonuria (PKU) is a genetic disorder caused by a defeat in a http://www.pku-allieddisorders.org/allieddisorders.htm

Homocystinuria MSUD Organic Acidemias Phenylketonuria Tyrosinemia Urea Cycle Disorders All of the disorders listed above have a common thread. Each disorder is a metabolic disorder requiring a low protein diet along with strict medical supervision. Together we can make a difference as we reach out and across to one another For Links and support group information, Please click here For low protein recipes see this site: www.lowprotein.com Mansfield, MA 02048 Home Research Resources Disorders ... Disorders Homocystinuria Homocystinuria is a metabolic disorder caused by a defective enzyme (cystathionine synthetase) needed to digest the amino acid in protein called methionine. Once diagnosed, the initial treatment would be changing the baby formula to a special medical formula, which does not contain methionine. Along with the medical formula the child will maintain a low protein/low methionine diet for life. Some of the more dominant systems of HCU include mental retardation, ectopia lentis (dislocation of the lenses of the eye), osteoporosis, delays in reaching developmental milestones, the formation of blood clots that may lead to life-threatening complications.

13. The Arc's Q & A On PKU PKU is inherited as a singlegene disorder. Single-gene disorders are caused bya mutant or abnormal gene. They can be inherited in one of three patterns http://www.thearc.org/faqs/pku.html

Phenylketonuria (PKU) What is PKU? PKU, which stands for Phenylketonuria, is an inherited metabolic disease (also called an inborn error of metabolism) that leads to mental retardation and other developmental disabilities if untreated in infancy. With an inborn error of metabolism, the body is unable to produce proteins or enzymes needed to convert certain toxic chemicals into nontoxic products, or to transport substances from one place to another (Glanze, 1996). The body's inability to carry out these vital internal functions may result in neurological damage. In the case of PKU, the amino acid called phenylalanine accumulates. As phenylalanine builds up in the bloodstream, it causes brain damage. Infants with untreated PKU appear to develop typically for the first few months of life, but by twelve months of age most babies will have a significant developmental delay and will be diagnosed with mental retardation before school entry. How is PKU inherited? PKU is inherited as a single-gene disorder. Single-gene disorders are caused by a mutant or abnormal gene. They can be inherited in one of three patterns: autosomal dominant, autosomal recessive and X-linked. PKU is an autosomal recessive disorder. Each parent of a child with PKU carries one defective gene for the disorder and one normal gene. In a recessive condition, an individual must have two defective genes in order to have the disorder. Individuals with only one copy of a defective gene are called "carriers," show no symptoms of having the disease, and usually remain unaware of their status until they have an affected child. In order for a child to inherit PKU, both parents must be PKU carriers. When this occurs, there is a one in four chance of their producing an affected child with each pregnancy. Boys and girls are equally at risk of inheriting this disorder.

14. PKU PKU sufferers may also have a skin disorder called eczema. Long Term Effects PKUaffected children who are not diagnosed and do not eliminate phenylalanine http://www.savebabies.org/diseasedescriptions/pku.php

Search Our Site! Phenylketonuria (PKU) An Amino Acid Disorder Save Babies Through Screening Foundation is comprised of volunteers. Some have children who were helped by newborn screening, and some have children who have died, or suffered brain damage. For many of the Foundation's volunteers, joy comes from knowing that your child was saved. Many hours of hard work have been done to help children, maybe even yours. Please let us hear from you. What is it? Phenylketonuria (PKU) is a hereditary disease that is caused by the lack of a liver enzyme required to digest phenylalanine. Phenylalanine is an amino acid that is most commonly found in protein containing foods such as meat, cow's milk, over the counter infant formulas (both regular and soy) and breast milk. Inheritance and Frequency The gene defect for phenylketonuria is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect. Studies show that 1 of every 17,000 live births will have phenylketonuria.

15. Phenylketonuria (PKU) Phenylketonuria (PKU). Includes information about the genetics of PKU, consequencesof the disorder, treatment through diet and a glossary. http://gslc.genetics.utah.edu/units/newborn/infosheets/PKU.cfm

16. Short Summary Of Disorders Short Summary of disorders. disorder, Incidence (Approximate), Symptoms If Not Treated,Treatment. Alzheimer s disorder can be managed but not cured. http://gslc.genetics.utah.edu/units/newborn/incidence.cfm

17. Phenylketonuria The Genetic disorder Phenylketonuria (PKU) Essays and Term Papers A briefexamination of this disorder, which affects brain development. http://www.health-nexus.com/phenylketonuria1.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Phenylketonuria MEDLINEplus: Phenylketonuria Phenylketonuria ... Phenylketonuria Contents of this page: General/Overviews Diagnosis/Symptoms Nutrition Prevention/Screening ... Phenylketonuria ... National PKU News news and information about PKU GeneClinics a medical genetics resource PHENYLKETONURIA (PKU) is an inherited error of metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase. Loss of this ... National PKU News: News and Information about Phenylketonuria The National PKU News web site provides news and information about phenylketonuria, a rare, inherited metabolic disease. Features include: newsletter articles, support information, diet-related... PHENYLKETONURIA (PKU) DEFINITION: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. ...

18. Phenylketonuria - PKU - NewbornScreening.Com Condition Phenylketonuria PKU This disorder is caused by the child s inabilityto break down phenylalanine. If not treated, this condition can lead to http://www.newbornscreening.com/cms/Phenylketonuria_PKU.shtml

Home Page All News About Newborn Screening Condition Profiles Discussion Forum Lab Profiles UPDATED 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 Public Health News Phenylketonuria - PKU Condition: Phenylketonuria - PKU This disorder is caused by the child's inability to break down phenylalanine. If not treated, this condition can lead to mental retardation, but the simple practice of avoiding foods with phenylalanine can lead to a normal life. On the order of one in 20,000 children has this disorder. More technical information from the Mountain States Genetic Network: Clinical Features 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.

19. Newborns Phenylketonuria (PKU) Inheritance of this disorder results in a buildup ofphenylalanine (a protein component) that results in developmental delays, seizures http://www.labtestsonline.net/understanding/wellness/a_newborn-7.html

TESTS Test not listed? A/G Ratio ACE ACT ACTH AFB Culture AFP Maternal AFP Tumor Marker Albumin Aldolase Aldosterone Allergies ALP Alpha-1 Antitrypsin ALT Ammonia Amylase ANA Antibody Tests Antiglobulin, Direct Antiglobulin, Indirect Antiphospholipids Antithrombin Apo A Apo B ApoE Genotyping aPTT AST Autoantibodies Bicarbonate Bilirubin Blood Culture Blood Gases Blood Smear BMP BNP Bone Markers BRCA BUN C-peptide CA-125 CA 15-3 CA 19-9 Calcitonin Calcium Cardiac Biomarkers Cardiac Risk Cardiolipin Antibodies Catecholamines CBC CCP C. diff CEA Celiac Disease Tests CF Gene Mutation Chemistry Panels Chlamydia Chloride Cholesterol CK CK-MB CMP CMV Coagulation Factors Complement Levels Cortisol Creatinine Creatinine Clearance CRP CRP, high-sensitivity

20. D'Adamo Knowledge Base: The Blood Type Diet Online D Adamo Knowledge Base. Phenylketonuria (PKU) an inherited disorder resultingin the inability to process the amino acid, phenylananine. http://www.dadamo.com/glossary/glossary.cgi?word=Phenylketonuria_(PKU)

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