Phenylketonuria
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Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe mental retardation. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.
The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.
Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.
NIH: National Institute of Child Health and Human Development
Provided by: NIH - National Institute of Health
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Phenylketonurias on #MDlinx
mdlinx.com — “Phenylketonurias on #MDlinx” View full resource at mdlinx.com
Most Recently Shared on October 8, 2010 at 12:12 pm By:
Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children: The Journal of Pediatrics http://bit.ly/bVgr1J #peds
Tennessee PKU Foundation
tennesseepku.org — “Tennessee PKU Foundation - Tennessee's PKU Community” View full resource at tennesseepku.org
Most Recently Shared on August 19, 2011 at 2:16 pm By:
Learn more about PKU & help the TN PKU Foundation raise funds by attending the "Memphis Metabolic Zoo Walk" on 10/ 15. http://t.co/4AiF26D
PKU Home - Patient Power
patientpower.info — “PKU Home - Patient Power” View full resource at patientpower.info
Most Recently Shared on June 16, 2011 at 3:35 pm By:
Phenylketonuria: eMedicine Dermatology
emedicine.medscape.com — “Overview: Phenylketonuria (PKU) was discovered and described by Folling in 1934. It is the most common inborn error of amino acid metabolism. Deficiency of the enzyme phenylalanine hydroxylase (PAH) leads to accumulation of phenylalanine (Phe) in the ...” View full resource at emedicine.medscape.com
Most Recently Shared on April 21, 2010 at 10:35 pm By:
Phenylketonuria (PKU) is detected by screening newborns. What is PKU, what are the causes and symptoms? http://bit.ly/auX3EY
Phenylketonuria (PKU) - PKU Organization of Illinois & Allied Disorders - Patient Power
patientpower.info — “Phenylketonuria (PKU) - PKU Organization of Illinois & Allied Disorders - Patient Power” View full resource at patientpower.info
Most Recently Shared on March 9, 2011 at 4:41 pm By:
Great news for patients. PKU Organization of Illinois now has their own Patient Power Player. http://goo.gl/3tlbM
PKU Awareness Month Info | Facebook
facebook.com — “Welcome to a Facebook Page about PKU Awareness Month. Join Facebook to start connecting with PKU Awareness Month.” View full resource at facebook.com
Most Recently Shared on July 14, 2009 at 12:14 am By:
PKU En Franais - Patient Power
patientpower.info — “La ph©nylc©tonurie (PCU) est une maladie g©n©tique rare qui se caract©rise par une incapacit© m©taboliser la ph©nylalanine (Phe), un acide amin©. La Phe est toxique pour le cerveau et elle peut produire progressivement des l©sions neurologiques graves, un retard mental, une diminution de l--™intelligence et des d©ficits moteurs si elle n--™est pas ma®tris©e.” View full resource at patientpower.info
Most Recently Shared on January 18, 2011 at 6:32 pm By:
Phenotyping and treatment of phenylketonuria -- Authors' reply : The Lancet
thelancet.com — “Phenotyping and treatment of phenylketonuria -- Authors' reply. By - Nenad Blau, Francjan J van Spronsen, Harvey L Levy” View full resource at thelancet.com
Most Recently Shared on February 4, 2011 at 6:58 pm By:
[Correspondence] Phenotyping and treatment of phenylketonuria – Authors' reply: We acknowledged in our paper t... http://bit.ly/elwExG
Fruits For A Pku Diet | LIVESTRONG.COM
livestrong.com — “Fruits For A Pku Diet. Phenylketonuria PKU is a genetic disorder that affects 1 in 25,000 Americans, according to 2007 information provided by the March of Dimes. An individual with PKU lacks the enzym...” View full resource at livestrong.com
Most Recently Shared on April 21, 2011 at 9:42 pm By:
Fruits for a PKU Diet: Phenylketonuria (PKU) is a genetic disorder that affects 1 in 25,000 Americans, ... http://bit.ly/eEFWUD #seniors
The Methods of PKU Determination | eHow.com
ehow.com — “The Methods of PKU Determination. Phenylketonuria (PKU) is a genetic condition that is inherited from both parents. PKU is usually diagnosed following a standard blood test shortly after birth. If PKU is detected late or left...” View full resource at ehow.com
Most Recently Shared on March 25, 2011 at 6:23 am By:
The Methods of PKU Determination: Phenylketonuria (PKU) is a genetic condition that is inherited from both paren... http://bit.ly/fZT39S
Adults With Genetic Disorder PKU Need To Get Back To The Clinic
medicalnewstoday.com — “Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those find” View full resource at medicalnewstoday.com
Most Recently Shared on January 22, 2010 at 3:20 pm By:
Adults With Genetic Disorder PKU Need To Get Back To The Clinic: Genetic researchers at Children's Memorial Hosp.. http://bit.ly/15hq9d
Symposier - Unequal access to neonatal screening for Phenylketonuria patients in Romania
symposier.com — “Uploaded and shared in Youtube by: eurordis --" Patient Testimony Unequal access to neonatal screening for Phenylketonuria patients in Romania, Carmen Cordea, PKU Life Romania” View full resource at symposier.com
Most Recently Shared on March 8, 2011 at 9:48 pm By:
Unequal access to neonatal screening for Phenylketonuria patients in Romania. http://bit.ly/f3gprP
Adult with PKU Thriving: My Parents Deserve the Credit - Patient Power
patientpower.info — “Adult with PKU Thriving: My Parents Deserve the Credit - Patient Power” View full resource at patientpower.info
Most Recently Shared on November 3, 2010 at 8:55 pm By:
New Powerful Patient Story - Adult with PKU Thriving: My Parents Deserve the Credit #PKU http://goo.gl/pukmu
Fund research and find a cure for the metabolic disorder PKU | Pepsi Refresh Everything
refresheverything.com — “Vote for the most refreshing ideas to win Pepsi Refresh Project grants for Health” View full resource at refresheverything.com
Most Recently Shared on August 26, 2010 at 2:42 pm By:
Fund research and find a cure for #PKU http://www.refresheverything.com/npkuafindacure
Encouraging Preliminary Safety And Efficacy Trends In Phase 2 Clinical Study Of PEG-PAL In PKU
medicalnewstoday.com — “BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced an update in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (” View full resource at medicalnewstoday.com
Most Recently Shared on August 5, 2010 at 4:05 pm By:
Encouraging Preliminary Safety And Efficacy Trends In Phase 2 Clinical Study Of PEG-PAL In PKU http://mnt.to/3H29 #endocrinology
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