Gourt > Health > Conditions and Diseases > Rare Disorders > Phenylketonuria
Phenylketonuria * is a human genetic disorder (though it is possible to exist in mice), in which the body lacks phenylalanine hydroxylase, the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products. The incidence of occurrence of PKU is 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.
History
Phenylketonuria was discovered by the Norwegian physician Ivar Asbjørn Følling in 1934 when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation. In Norway, this disorder is known as Følling's disease, named after its discoverer. Dr. Følling was one of the first physicians to apply detailed chemical analysis to the study of disease. His careful analysis of the urine of two retarded siblings led him to request many physicians near Oslo to test the urine of other retarded patients. This led to the discovery of the same substance that he had found in eight other patients. The substance found was subjected to much more basic and rudimentary chemical analysis than is available today. He conducted tests and found reactions that gave rise to benzaldehyde and benzoic acid, which led him to conclude the compound contained a benzene ring. Further testing showed the melting point to be the same as phenylpyruvic acid, which indicated that the substance was in the urine. His careful science inspired many to pursue similar meticulous and painstaking research with other disorders.
Defects
Classical PKU 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 there is a defect in the biosynthesis or recycling of the cofactor tetrahydrobiopterin (BH4) by the patient.2 More on [ Phenylketonuria ]
Genetic Disorders
Brain Diseases
Nutrition and Metabolism Disorders
my 1st fave word: Jonas my 2nd fave word: deoxyribonucleic acid my 3rd fave word: phenylketonuria and all other big fancy words lol
KaeleyDeNegre45 (kaeley denegre) Mon, 21 Dec 2009 20:56:40 -0000
my 1st fave word: Jonas my 2nd fave word: deoxyribonucleic acid my 3rd fave word: phenylketonuria and all other big fancy words lol
Workmates muck in for charity calendar: Great Yarmouth Mercury Phenylketonuria is a build-up in the body of phe.. http://bit.ly/4NYQDm
laineysmailbox (laineys) Sat, 19 Dec 2009 06:17:04 -0000
Workmates muck in for charity calendar: Great Yarmouth Mercury Phenylketonuria is a build-up in the body of phe.. http://bit.ly/4NYQDm
via @jay_pe Phenylketonuria http://digg.com/u1IDXD #palin #tcot
palintwibe (Palin Twibe) Fri, 18 Dec 2009 03:14:58 -0000
via @jay_pe Phenylketonuria http://digg.com/u1IDXD #palin #tcot
Phenylketonuria - What is It? @ http://aclnk.com/ar2497619
cpetshks (cpetshks) Thu, 17 Dec 2009 18:21:10 -0000
Phenylketonuria - What is It? @ http://aclnk.com/ar2497619
eff of kuvan on functional brain connectivity in individuals w/ phenylketonuria http://bit.ly/4Pqzd2
localtrials (US Clinical Trials ) Thu, 17 Dec 2009 06:50:46 -0000
eff of kuvan on functional brain connectivity in individuals w/ phenylketonuria http://bit.ly/4Pqzd2
eff of kuvan on functional brain connectivity in individuals w/ phenylketonuria http://bit.ly/4Pqzd2
usclinicaltrial (US Clinical Trials) Thu, 17 Dec 2009 06:18:43 -0000
eff of kuvan on functional brain connectivity in individuals w/ phenylketonuria http://bit.ly/4Pqzd2
Children's PKU Network - Organisation offering education and direct assistance. Includes details of projects, plus links to food suppliers.
Meta Description: [ PKU or phenylketonuria is a metabolic disorder related to
hyperphenylalaninemia. PKU Network is a non-profit organization offering newborn screening to
detect these diseases in their early stages. ]
Firstplay Dietary Foods LTD - Range of low protein food products for adult and child PKU patients on a low phenylalanine diet.
Medline Plus: Phenylketonuria - Definition, causes, symptoms and treatment.
National PKU News - Organisation providing information and news to families and professionals. Includes general information about the condition, dietary advice, research, personal stories and support.
Meta Description: [ 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 information, research, and legislation and policies. ]
Pediatric Oncall - In-depth look at Phenylketonuria (PKU). Includes symptoms, diagnosing, newborn screening, treatment and follow up.
Meta Description: [ phenylketonuria (PKU) Pediatric Oncall ]
Phenylketonuria - Definition, causes, symptoms and treatments.
PKU Exchange - Offering a UK food database, exchange calculator, recipes, and articles. Includes a message board.
Meta Description: [ PKU Exchange is an information resource based in the UK for patients and families living with the metabolic disorder phenylketonuria or PKU. The site includes a comprehensive UK food database, diet management tools, news and articles, recipes and a PKU community. ]
PKU-Info.org - Provides general information, plus links to organisations, suppliers and mailing lists. Also includes a forum. [English and German]
Meta Description: [ The PKU-info.org web site provides news, information and links about phenylketonuria, a rare, inherited metabolic disease. Web site sections include: Information WhatIsPKU StoriesAndSpeeches OtherInformation Ressources Organisations FoodSupplier Websites - Links MailingLists Guestbook News pku-in... ]
Tuxes for Tia - A fund raising event for PKU research on behalf of the Piziali Family Foundation for PKU. Learn about phenylketonuria.
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