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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

Phenylketonuria (PKU): Home Treatment
Phenylketonuria (PKU). Home Treatment. Home treatment for phenylketonuria (PKU) focuses on Learning about PKU and teaching your child about the disorder.
http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=hw44788&e=747
Phenylketouria / PKU
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
http://thailabonline.com/pku.htm&e=747
Pregnancy
Phenylketonuria (PKU). Inheritance of this disorder results in a buildup of phenylalanine (a protein component) that results in developmental delays, seizures
http://www.labtestsonline.org/understanding/conditions/pregnancy-35.html&e=747
Genetic Disorders Forum - Phenylketonuria (PKU) Information
Phenylketonuria (PKU) is a rare, genetic (inherited) disorder that can cause abnormal mental and physical development if not detected promptly and treated
http://ehealthforum.com/health/subject80_210340_what.html&e=747

Extractions: (*) This Content Is Reviewed by the Faculty of the Harvard Medical School; Provided by InteliHealth Genetic Disorders Forum Jump to: Select a forum Mental Health Bipolar Disorder Depression Mental Conditions Schizophrenia New Member Introductions Pregnancy Teen Pregnancy Getting Pregnant Pregnancy Calendar Early Pregnancy Signs and Symptoms First Trimester of Pregnancy Second Trimester of Pregnancy Third Trimester of Pregnancy Labor and Delivery Pregnancy after Forty Depression During Pregnancy Multiple Pregnancy Single and Pregnant Baby Names Caring for Your Newborn Postpartum Depression Daddy Tips Grandparenting Infant Safety Tips Baby Milestones Baby Showers Pregnancy Fitness, Health and Nutrition
Genetic Disorders Forum - Phenylketonuria (PKU) Duration
Genetic disorders Forum Phenylketonuria (PKU) Duration, PKU is an inherited disorder that lasts throughout a person s lifetime. all Related
http://ehealthforum.com/health/subject80_210340_duration.html&e=747

Extractions: (*) This Content Is Reviewed by the Faculty of the Harvard Medical School; Provided by InteliHealth Genetic Disorders Forum Jump to: Select a forum Mental Health Bipolar Disorder Depression Mental Conditions Schizophrenia New Member Introductions Pregnancy Teen Pregnancy Getting Pregnant Pregnancy Calendar Early Pregnancy Signs and Symptoms First Trimester of Pregnancy Second Trimester of Pregnancy Third Trimester of Pregnancy Labor and Delivery Pregnancy after Forty Depression During Pregnancy Multiple Pregnancy Single and Pregnant Baby Names Caring for Your Newborn Postpartum Depression Daddy Tips Grandparenting Infant Safety Tips Baby Milestones Baby Showers Pregnancy Fitness, Health and Nutrition
Healthwise
Topic Overview Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood. This
http://www.sutterwomens.org/health/healthinfo/index.cfm?section=healthinfo&page=
Intellectual, Developmental And Learning Disabilities
Sep 2002; Phenylketonuria (PKU) Better Health Channel Phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot
http://www.healthinsite.gov.au/topics/Intellectual__Developmental_and_Learning_D
WebMD Health - 404 Error
Phenylketonuria (PKU) Topic Overview Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood.
http://my.webmd.com/hw/raising_a_family/hw44747.asp&e=747

Extractions: Right now, we're improving WebMD content and ease of use across our entire site. During this time, some pages like this one may be briefly unavailable. We apologize for your inconvenience. In the meantime, please try our Diseases and Condition Centers listed below. A B C D ... I J K L M N ... P Q R S T U V W X Y Z A
Phenylketonuria
Phenylketonuria PKU. PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation.
http://gunsmoke.ecn.purdue.edu/~kpasquet/project/pku.html&e=747

Extractions: PKU (phenylketonuria) is an inherited disorder of body chemistry that, if untreated, causes mental retardation. Fortunately, most affected newborns are now diagnosed and treated early, allowing them to grow up free of mental retardation. About one baby in 15,000 is born with PKU in the United States. The disorder occurs in all ethnic groups, although it is most common in individuals of Northern European ancestry. PKU is a disease that affects the way the body processes food. Children with PKU cannot process a part of protein called phenylalanine. As a result, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. Children born with PKU appear normal for the first few months. Untreated, at three to five months they begin to lose interest in their surroundings and, by the time they are a year old, they are mentally retarded. Children with PKU often are irritable, restless and destructive. They may have a musty odor about them, and often have dry skin or rashes. Some have convulsions. Usually, they become physically well developed children, and have blonder hair than their relatives. PKU is inherited when both parents have the PKU gene and pass it on to their baby. A parent who has the PKU gene, but not the disease, is called a "carrier." A carrier has a normal gene as well as a PKU gene in each cell. A carrier's health is not affected in any known way. When both parents are carriers, there is a one-in-four chance that each will pass the PKU gene on to a child, causing it to be born with the disease. There also is a one-in-four chance that they will each pass on a normal gene, and the child will be free of the disease. There is a two-in-four chance that a baby will inherit the PKU gene from one parent and the normal gene from the other, making it a carrier like its parents. These chances are the same in each pregnancy.
Aussie Bodies: Page Not Found
Home Glossary PQR, Phenylketonuria (PKU). A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine.
http://www.aussiebodies.com.au/glossary/q+p+r/phenylketonuria+(pku).htm&e=747
Health Library -
Phenylketonuria (PKU). Topic Overview. Phenylketonuria (PKU) is a genetic disorder that causes the amino acid phenylalanine to build up in the blood.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Birth Defects Genetics Common Forms Of Inheritance
Phenylketonuria (PKU), a metabolic disorder primarily affecting Caucasians. XLinked Recessive Inheritance The X and Y chromosomes
http://www.modimes.org/pnhec/4439_4136.asp&e=747
NSPKU - What Is Phenylketonuria (PKU)
What is Phenylketonuria? Phenylketonuria (PKU) is a genetic disorder which prevents the normal use of protein food. All new born
http://web.ukonline.co.uk/nspku/morepku.htm&e=747
PKU Home Page
be mislabelled. What is Phenylketonuria (PKU)? PKU is a genetic disorder which prevents the normal use of protein food. The condition
http://web.ukonline.co.uk/nspku/&e=747
PKU
Search Our Site! Phenylketonuria (PKU) An Amino Acid disorder What is it? Phenylketonuria (PKU) is a hereditary disease that is
http://www.savebabies.org/diseasedescriptions/pku.php&e=747
Pku
Checklist Symptoms Treatments Dietary changes Lifestyle changes Supplements References Phenylketonuria (PKU) is a rare genetic disorder that results in
http://www.thenewhealthfind.com/health/pku&e=747

Extractions: Phenylketonuria rank: Directory Home: Health: Conditions and Diseases: Rare Disorders: Phenylketonuria (5) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Nutrition and Metabolism Disorders Children's PKU Network - Information about the organization and contact details as well as links to data about phenylketonuria. National PKU
IComm: File Not Found!
One of interest and that was not limited on information was the phenylketonuria (PKU) disorder. This was also caused by inborn error s
http://www.icomm.ca/geneinfo/bludpr.htm&e=747
Newborn Screening.
Phenylketonuria (PKU) a disorder where the liver does not produce enough of a particular enzyme and cannot metabolise (breakdown) phenylalanine (one of the
http://www.betterhealthchannel.com.au/bhcv2/bhcarticles.nsf/pages/Newborn_screen
Metabolic Disorder
Classical phenylketonuria (PKU) is a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme known as
http://www.websters-online-dictionary.org/definition/english/Me/Metabolic%20diso

Extractions: Philip M. Parker, INSEAD. Metabolic Disorder Definition: Metabolic Disorder . A disorder or defect of metabolism. Source: WordNet 1.7.1 Specialty Definitions: Metabolic Disorder Domain Definitions A condition in which normal metabolic processes are disrupted, usually because of a missing enzyme. ( references Source: compiled by the editor from various references ; see credits. Top Specialty definitions using "metabolic disorder" citric acid/potassium-sodium citrates Diabetes Mellitus, Lipoatrophic Glycogen Storage Disease Type III Glycogen Storage Disease Type IV ... Top Non-Fiction Usage: Metabolic Disorder Subject Topic Quote Some babies who die s uddenly may be born with a metabolic disorder references Classical phenylketonuria (PKU) is a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). ( references Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. ( references Source: compiled by the editor from ICON Group International, Inc.
Phenylketonuria
Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from
http://www.websters-online-dictionary.org/definition/english/ph/phenylketonuria.

Extractions: Philip M. Parker, INSEAD. Phenylketonuria Definition: Phenylketonuria . A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency. Source: WordNet 1.7.1 Synonym: Phenylketonuria Synonym: PKU (n). ( additional references Top Specialty Definition: Phenylketonuria (From Wikipedia , the free Encyclopedia) Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland. PKU usually is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. A rarer form of the disease occurs when PAH is normal but its cofactor tetrahydrobiopterin (BH ) is not synthesised by the patient. This enzyme normally converts the amino acid phenylalanine to tyrosine. If, due to a faulty or missing enzyme, this reaction does not take place, levels of phenylalanine in the body can be far higher than normal, and levels of tyrosine lower than normal. Excess phenylalanine in the blood harms brain development in the child, leading to mental retardation; low levels of tyrosine leads to lowered production of the pigment melanin, so children with this condition tend to be fair haired and blue eyed. The excess phenylalanine is converted instead into phenylketones, which are excreted in the urine - hence the name for this condition. The sweat and urine of an affected child has a musty odour due to these ketones.

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