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Topic: PKU

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Phenylketonuria

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Pernell Whitaker

	Activist : Info on PKU (Phenylketonuria)
		PKU is inherited when both parents have the PKU gene and pass it on to their baby.
		Because an occasional case of PKU can be missed when the test is performed too soon after birth, the American Academy of Pediatrics recommends that infants whose initial test was taken within the first 24 hours of life be tested again at two to three weeks of age.
		The March of Dimes urges all young women who know or suspect that they were treated for PKU as children to contact their doctor or clinic before they attempt to conceive, so that their blood phenylalanine levels can be measured and the special diet begun, if necessary.
	users.westnet.gr /~cgian/pku.htm (0 words)

	PHENYLKETONURIA (PKU)
		Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
		Classic PKU is the most common cause of high levels of phenylalanine in the blood and will be the primary focus of this topic sheet.
		The goal of PKU treatment is to maintain the blood level of phenylalanine between 2 and 10 mg/dl.
	www.medhelp.org /lib/pku.htm (1474 words)

	Phenylketonuria (PKU) Test
		A phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body.
		PKU test results are more likely to be correct if the blood sample is taken after the baby has been drinking milk or formula for at least 48 hours.
		A phenylketonuria (PKU) test is done to check whether a new baby has the enzyme to use phenylalanine in his or her body.
	children.webmd.com /Phenylketonuria-PKU-Test (749 words)

	Phenylketonuria (PKU)
		Phenylketonuria (PKU) is a disorder of amino acid metabolism that was recognized as a genetic defect as early as 1930.
		The incidence of PKU is approximately 1 in 12,000 Caucasians.
		Because the diagnosis and therapy of PKU is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric metabolic disease specialist and dietician.
	www.pediatrix.com /body_screening_menu.cfm?id=1581 (789 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.
		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.
		Classical PKU is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH).
	en.wikipedia.org /wiki/Phenylketonuria (983 words)

	PKU Digest (Site not responding. Last check: )
		Classical PKU is inherited in a strictly autosomal recessive manner and is the result of mutations in the structural gene for phenylalanine hydroxylase.
		In 1 proband it was inherited with the splice junction mutation in exon 12 (on haplotype 3), conferring PKU.
		The G46S mutation was present in 17 of 236 Norwegian PKU alleles (7.2%) and in 8 of 176 Swedish PKU alleles (4.5%).
	pku.emailcouch.com /digest.htm (9802 words)

	NSPKU Home
		If you have PKU and were born in the UK, please click here
		The NSPKU exists to help and support people with PKU, their families and carers.
		If you are a new parent of a baby that has just been diagnosed with PKU, we suggest that you follow the link to the What is PKU page before exploring the rest of the site.
	www.nspku.org (0 words)

	Expanded Newborn Screening Using Tandem Mass Spectromety
		All children with PKU should be followed by a metabolic doctor in addition to their primary care provider.
		PKU is inherited in an autosomal recessive manner.
		PKU is confirmed by measuring the amount of Phe in a blood sample.
	www.newbornscreening.info /Parents/aminoaciddisorders/PKU.html (1960 words)

	Phenylketonuria (PKU) Test
		A phenylketonuria (PKU) test is a blood test done to determine whether a newborn has the enzyme to metabolize phenylalanine.
		PKU is an inherited disease caused by the absence of the enzyme that converts excess phenylalanine into another amino acid called tyrosine.
		PKU test results are more likely to be accurate if the blood sample is taken after the baby has been on a milk diet for at least 48 hours.
	www.webmd.com /hw/raising_a_family/hw41965.asp (1201 words)

	What is PKU? (Site not responding. Last check: )
		(PKU), rare hereditary disease in newborn infants in which the enzyme that processes the amino acid phenylalanine is defective or missing, leading to the accumulation of phenylalanine in the blood shortly after birth.
		Untreated persons with PKU commonly have blond hair and blue eyes because excess phenylalanine inhibits the formation of melanin, the pigment that gives hair and eyes their colour.
		PKU is an autosomal recessive genetic disorder—that is, a child must inherit a defective gene from both parents.
	pku.emailcouch.com /whatis.htm (544 words)

	Phenylketonuria, Folling’s Disease, PKU
		PKU during pregnancy (maternal PKU) is of particular concern.
		PKU results from a deficiency or malfunction of the enzyme, phenylalanine hydroxylase, which converts phenylalanine to L-tyrosine.
		The results of a preliminary study of children with PKU suggested that the low-fat PKU diet intake may impair the absorption of vitamin K, a fat-soluble vitamin, from the diet, possibly resulting in a vitamin K deficiency.
	www.truestaragent.net /Notes/1247002.html (2408 words)

	The Arc's Q & A on PKU (Site not responding. Last check: )
		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.
		Although treatment for PKU using a low phenylalanine diet was first described in the 1950s, the inability to detect PKU early in the child's life limited effective treatment.
		Therefore, women who have PKU should be on a phenylalanine restricted diet at least one year before pregnancy and should stay on the diet while breast-feeding to increase the chance of having a healthy child (Levy, 1988).
	www.thearc.org /faqs/pku.html (1516 words)

	Phenylketonuria (Site not responding. Last check: )
		Phenylketonuria (PKU) is an inherited disorder characterized by an inability to metabolize the amino acid phenylalanine.
		In the United States, all newborns are screened for PKU as part of a routine newborn check-up.
		PKU can be diagnosed before the baby is born, with amniocentesis.
	mercyhealthpartners.client.web-health.com /web-health/topics/GeneralHealth/generalhealthsub/generalhealth/genetic_disorders/pku.html (878 words)

	MedlinePlus Medical Encyclopedia: Phenylketonuria
		Phenylketonuria (PKU) is a rare condition in which the body does not properly break down (metabolize) an amino acid called phenylalanine.
		PKU occurs when a person is missing an enzyme called phenylalanine hydroxylase, which is needed to break down phenylalanine.
		If the proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life.
	www.nlm.nih.gov /medlineplus/ency/article/001166.htm (804 words)

	Phenylketonuria (PKU) - Better Health Channel.
		PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.
		PKU is a genetic disorder that occurs when a baby has two faulty copies of the PKU gene.
		When both parents are carriers of the faulty PKU gene, their child will be born with PKU if they receive one copy of the faulty gene from each parent.
	www.betterhealth.vic.gov.au /bhcv2/bhcarticles.nsf/pages/Phenylketonuria_(PKU)?open (651 words)

	Children's PKU Network - What is PKU? (Site not responding. Last check: )
		Phenylketonuria (PKU) is a genetic inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (newborn screening).
		PKU is inherited as an autosomal recessive trait.
		It is estimated that PKU occurs in one in 15,000 newborns in the United States.
	www.pkunetwork.org /PKU.html (288 words)

	PKU Press Winter 1999 Articles
		In classical PKU the blood phenylalanine levels are very high and the child requires the phenylalanine-restricted diet in order to grow and develop to his or her greatest potential.
		PKU is a rare disease and typically 1 in 15,000 babies in the United States are identified as having PKU.
		As his talk disclosed, the way in which PKU is detected and treated in Illinois was shaped by visionary clinicians and by one mother's efforts to assist her child in receiving necessary treatment.
	www.pkuil.org /PressWinter99Articles.htm (2187 words)

	Phenylketonuria ( PKU ) - DrGreene.com
		PKU is an inherited condition, passed along as a recessive trait.
		PKU is somewhat rare (seen in fewer than one in 10,000 children), but important to identify.
		PKU is usually identified on the newborn screening test, but the screening test is most reliable if performed after 48 to 72 hours of life.
	www.drgreene.com /21_1156.html (1077 words)

	National PKU News: What is PKU?
		PKU (phenylketonuria), in its "classic" form, 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 the diet each year.
		Children with the severe form of PKU once were destined to become mentally retarded and spend their lives in institutions.
	web47.radiant.net /~pkunews/about/intro.htm (948 words)

	Quick Reference: PKU
		PKU is inherited when both parents have the PKU gene and both pass it on to their baby.
		Since some cases of PKU can be missed when the test is performed this early, the American Academy of Pediatrics recommends that infants whose initial test was taken within the first 24 hours of life be tested again at one to two weeks of age.
		Individuals with PKU must remain on a restricted diet throughout childhood and adolescence, and generally for life (although some relaxation of the diet may be possible in some cases as the individual ages).
	www.marchofdimes.com /professionals/14332_1219.asp (1438 words)

	FDLRC - PKU
		However, if PKU is not diagnosed shortly after birth, the chronically high PHE levels will cause mental retardation and a variety of other problems.
		Symptoms of PKU may vary with each individual according to the severity of damage, but some of these include: mental retardation, behavioral disorders such as head-banging, self-injurious behavior and aggression, dry scaly skin, unsteady gait, loss of muscle tone, seizures and spasticity.
		Treatment for PKU normally includes dietary control such as eating foods low in PHE and consuming a protein substitute called "medical food." Medical foods contain vitamins, minerals and all essential amino acids except phenylalanine.
	www.lanterman.org /news/HealthViews/WhatPKU.asp (334 words)

	PKU
		In order to understand PKU, it is necessary to understand some basic concepts of metabolism, which is the process by which compounds from our diet are chemically changed and used by our body to carry out the basic functions of life.
		It is critical that females with PKU have acceptable phenylalanine levels before becoming pregnant (optimally at least three months before conception) and that the levels be within the treatment range throughout the pregnancy.
		Untreated maternal PKU is associated with a very high risk of mental retardation and other birth defects (such as congenital heart disease and small head size) to the baby.
	www.medschool.lsuhsc.edu /genetics_center/louisiana/article_PKU.htm (1680 words)

	Newborn Screening Case Management - Phenylketonuria (PKU) (Site not responding. Last check: )
		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.
		PKU Organization of Illinois - The PKU Organization of Illinois is a not-for-profit membership organization for the benefit of patients and families.
	www.dshs.state.tx.us /newborn/pku.shtm (597 words)

	Phenylketonuria (PKU) Pediatric Oncall (Site not responding. Last check: )
		The mutation that causes PKU is located on chromosome 12.
		Infants with PKU should be breast fed along with special formula which are phenylalanine free.
		Individuals with PKU must remain on a restricted diet throughout life.
	www.pediatriconcall.com /fordoctor/diseasesandcondition/pku.asp (581 words)

	.:PKU Wiki::PhenylKetonUria:. (Site not responding. Last check: )
		PKU is a metabolic disturbance, which was proven as such 1934 of the Norwegian physician Dr. A.
		PKU is a pass down disturbance in the Phenyalanin Metabolism.
		The heiress informations for PKU are always passed on the child concerned by both parents.
	www.pku-info.org /cwiki.php?page=PhenylKetonUria (316 words)

	Phenylketonuria (PKU) Information on Healthline
		In phenylketonuria (PKU), a defect in the liver enzyme prevents the conversion of the protein called phenylalanine into a useful form.
		If left untreated, a child with PKU will suffer mental retardation by the end of his or her first year, with the first signs of intellectual delay exhibited by six or seven months of age.
		Although the recessive hereditary nature of the disease will prevent the child from having PKU, he or she is at high risk for mental retardation, microcephaly (an abnormally small head), low birth weight, and congenital heart disease if the mother does not regulate her protein intake.
	www.healthline.com /galecontent/phenylketonuria-pku (602 words)

	Personal Stories: My PKU Diet Story
		PKU is a genetic condition, and with that comes responsibilities such as understanding what PKU is, going to Toronto to visit my dietician, and being careful about what I eat.
		When someone has PKU they have to follow a low protein diet because their body can’t break down a part of protein (so they’re a little different from you!).
		PKU is not a very common condition; in fact, in Ontario about 1 child in 12,000 is born with PKU, so as you can see this is a very rare condition.
	www.pkunews.org /personal/myPKU.htm (730 words)

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