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Topic: Phenylketonuria

Related Topics

PKU

Cystic fibrosis

Guthrie test

Enzyme

Mental retardation

Cofactor (biochemistry)

Phenylalanine

Cerebral palsy

Spasticity

Fragile X

Adrenoleukodystrophy

Hypothyroidism

Tardive dyskinesia

Stereotypy

Deflation (economics)

	eMedicine - Phenylketonuria : Article by Georgianne L Arnold
		Phenylketonuria (PKU) is an inborn error of protein metabolism that results from an impaired ability to metabolize the essential amino acid phenylalanine.
		Some adults with untreated phenylketonuria (PKU) who are mentally retarded adults may show improvement in behavior and physical manifestations when treated with a phenylalanine-restricted diet.
		Birth defects, microcephaly, and mental retardation are common in infants of mothers with phenylketonuria if the mother's phenylalanine levels are not controlled during pregnancy.
	www.emedicine.com /ped/topic1787.htm (2425 words)

	Phenylketonuria - Wikipedia, the free encyclopedia
		Phenylketonuria [PKU] 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.
		Phenylketonuria was discovered by the Norwegian physician Ivar Asbjørn Følling in 1934 when he noticed that hyperphenylalaninemia (HPA) was associated with mental retardation.
		The problem is readily detectable within days of birth from a small blood sample -- the Guthrie heel prick test, so screening for phenylketonuria is done routinely in most industrialised countries, usually combined with testing thyroid function and other genetic disorders of metabolism.
	en.wikipedia.org /wiki/Phenylketonuria (968 words)

	Lifespan's A - Z Health Information Library - Phenylketonuria (Site not responding. Last check: )
		Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized.
		Phenylketonuria (PKU) is inherited as an autosomal recessive trait (both parents must pass on the defective gene for the child to be affected).
		The genetically-determined abnormality in phenylketonuria is a missing enzyme called phenylalanine hydroxylase.
	www.lifespan.org /adam/healthillustratedencyclopedia/1/001166.html (730 words)

	Phenylketonuria (PKU) Pediatric Oncall (Site not responding. Last check: )
		Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase that is responsible for processing the essential amino acid phenylalanine and leads to elevated levels of phenylalanine and phenylalanine metabolites.
		If phenylketonuria runs in the family and DNA is available from the affected family member, amniocentesis or chorionic villus sampling with DNA analysis can be performed to determine whether the fetus has the disorder.
		Screening for phenylketonuria by measurement of phenylalanine level on a dried-blood spot specimen, collected by heel stick and adsorbed onto filter paper is recommended for all newborns.
	www.pediatriconcall.com /fordoctor/diseasesandcondition/pku.asp (581 words)

	[Clinical Preventive Services] Screening for Phenylketonuria (Site not responding. Last check: )
		Screening for phenylketonuria (PKU) by measurement of phenylalanine level on a dried-blood spot specimen is recommended for all newborns prior to discharge from the nursery.
		Screening for phenylketonuria by measurement of phenylalanine level on a dried-blood spot specimen, collected by heelstick and adsorbed onto filter paper,10a is recommended for all newborns before discharge from the nursery ("A" recommendation).
		Maternal phenylketonuria and hyperphenylalaninemia: an international survey of the outcome of untreated and treated pregnancies.
	cpmcnet.columbia.edu /texts/gcps/gcps0054.html (1773 words)

	HighBeam Encyclopedia - phenylketonuria
		PHENYLKETONURIA [phenylketonuria] (PKU), inherited metabolic disorder caused by the absence of a specific enzyme (phenylalanine hydroxylase).
		Phenylketonuria - impact of nutrition support on reproductive outcomes.
		Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregivers.
	www.encyclopedia.com /html/p1/phenylke.asp (242 words)

	PKU (Site not responding. Last check: )
		Phenylketonuria (PKU) is a hereditary disease that is caused by the lack of a liver enzyme required to digest phenylalanine.
		The gene defect for phenylketonuria is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation.
		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.
	www.savebabies.org /diseasedescriptions/pku.php (585 words)

	Phenylketonuria (Site not responding. Last check: )
		Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine.
		Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation.
		Phenylalanine is toxic to fetal development and severe disorders occur in the children of women whose phenylketonuria is untreated during pregnancy.
	www.orpha.net /static/GB/phenylketonuria.html (210 words)

	Phenylketonuria
		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.
		Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets.
		Lombeck I, Jochum F, Terwolbeck K. Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria.
	www.publix.com /wellness/notes/Display.do?id=Concern&childId=Phenylketonuria (2454 words)

	Phenylketonuria definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms
		Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
		Phenylketonuria is inherited in an autosomal recessive manner, as are lesser degrees of phenylalanine hydroxylase deficiency.
		Phenylketonuria - Phenylketonuria is an inherited disorder in which signs and symptoms vary from mild to severe.
	www.medterms.com /script/main/art.asp?articlekey=4869 (298 words)

	Phenylketonuria Information!
		Phenylketonuria (PKU) is a rare, inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life.
		Although PKU affects only one out of every approximately 10,000 babies born in the US, there are several hundred babies diagnosed and put on a strict diet each year.
		This means that all concentrated sources of protein must be eliminated from the diet in order to limit the amount of phenylalanine.
	www.sweetpoison.com /phenylketonuria.html (687 words)

	Phenylketonuria (PKU) Test
		A phenylketonuria (PKU) test is a blood test done to determine whether a newborn has the enzyme to metabolize phenylalanine.
		A phenylketonuria (PKU) test is done to determine whether a newborn has the enzyme to metabolize phenylalanine.
		If the test shows high phenylalanine levels, a blood sample is taken from the baby's vein as soon as possible to confirm whether he or she has PKU.
	www.webmd.com /hw/raising_a_family/hw41965.asp (1201 words)

	Spears & MacLeod: Medical Links: Phenylketonuria: Pharmasave :Yarmouth, Nova Scotia : GrassRoutes
		Phenylketonuria (PKU) Test, Blood(003491) 84030 Phenylalanine Test; PKU; PKU Test State patient's exact age on the request form.
		PKU or phenylketonuria is a metabolic disorder related to hyperphenylalani...
		I(12 pts) In humans, nearsightedness and the disorder phenyLketonuria are both inherited as independently assorting autosomal recessive traits.
	www.spearsmacleod.com /links/p/phenylke (1621 words)

	Phenylketonuria - Genetics Home Reference
		Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood.
		The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
		You might also find information on treatment of phenylketonuria in Educational resources and Patient support.
	ghr.nlm.nih.gov /condition=phenylketonuria (895 words)

	Phenylketonuria
		Phenylketonuria (or PKU) is an inherited disorder, that, left untreated, changes cells inside the brain and can lead to mental retardation.
		This dramatic change in behaviour can be traced to a tiny mutation in a single gene on chromosome 12.
		Every newborn in Australia is given a blood test to check for the presence of particular genetic or metabolic disorders, including phenylketonuria (PKU), hypothyroidism and cystic fibrosis.
	www.healthinsite.gov.au /topics/Phenylketonuria (256 words)

	Phenylketonuria - WrongDiagnosis.com
		Information about treatments available for Phenylketonuria can be found in the treatment pages.
		Research more detailed information about misdiagnosis of Phenylketonuria, failure to diagnose Phenylketonuria, or research the wrong diagnosis of other diseases.
		Various sources and calculations are available in statistics about Phenylketonuria, prevalence and incidence statistics for Phenylketonuria, and you can also research other medical statistics in our statistics center.
	www.wrongdiagnosis.com /p/phenylketonuria/intro.htm (314 words)

	Phenylketonurics - Contains Phenylalanine! (Site not responding. Last check: )
		Well, if you have reached an age where you have the desire to drink diet soda and you still have the mental capacity to question whether or not you have PKU, the odds are that you don't have the disorder.
		Phenylketonuria is a metabolic disorder that results when the PKU gene is inherited from both parents.
		When babies are born in the United States, a heel stick blood test is done to test for various disorders - PKU is one of the disorders that is tested for.
	www.ess.sunysb.edu /tracy/whatis.html (1168 words)

	Barriers to Dietary Control Among Pregnant Women with Phenylketonuria --- United States, 1998--2000
		Newborns in the United States are screened for phenylketonuria (PKU), a metabolic disorder that when left untreated is characterized by elevated blood phenylalanine (phe) levels and severe mental retardation (MR).
		An estimated 3,000--4,000 U.S.-born women of reproductive age with PKU have not gotten severe MR because as newborns their diets were severely restricted in the intake of protein-containing foods and were supplemented with medical foods (e.g., amino acid-modified formula and modified low-protein foods) (1--4).
		The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study.
	www.cdc.gov /mmwr/preview/mmwrhtml/mm5106a1.htm (1698 words)

	MedlinePlus Medical Encyclopedia: Phenylketonuria
		Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
		Phenylketonuria (PKU) is inherited, which means it is passed down through families.
		Both parents must pass on the defective gene in order for a baby to have the condition.
	www.nlm.nih.gov /medlineplus/ency/article/001166.htm (824 words)

	Newborn Screening Case Management - Phenylketonuria (PKU) (Site not responding. Last check: )
		NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU People with the rare metabolic disorder phenylketonuria need to adhere to the special diet central to their treatment, concluded a Consensus Panel convened by the National Institutes of Health.
		National Coalition for PKU and Allied Disorders is a nonprofit organization comprised of individuals, metabolic support groups and professionals directly involved with issues related to errors of metabolism requiring low protein diet, including PKU, MSUD, HCU, the OA's, UCD's and Tyrosinemia.
		Children's PKU Network - The Children's PKU Network was founded in 1991 to address the special needs and concerns of individuals with phenylketonuria (PKU) and their families.
	www.dshs.state.tx.us /newborn/pku.shtm (597 words)

	Phenylketonuria
		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.
		"Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors." Pediatrics 104, no. 6 (December 1999): e68.
	www.lifesteps.com /gm/Atoz/ency/phenylketonuria.jsp (3120 words)

	www.ddhealthinfo.org - Medical Care Information (Site not responding. Last check: )
		Phenylketonuria (PKU) is a metabolic disorder inherited as an autosomal recessive trait.
		A mutant gene produces a defect in the enzyme phenylalanine hydroxylase (PAH), which prevents the conversion of phenylalanine (an essential amino acid found in protein-containing foods) to tyrosine.
		Waisbren, Susan E. “Phenylketonuria.” In: Handbook of Neurodevelopmental and Genetic Disorders in Children.
	www.ddhealthinfo.org /ggrc/doc2.asp?ParentID=5166 (1256 words)

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