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 #MDlinxView full resource at mdlinx.com

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Most Recently Shared on October 8, 2010 at 12:12 pm By:

MDLinx Sandeep Pulim MD Doctor, Health Communicator, and Physician

Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children: The Journal of Pediatrics http://bit.ly/bVgr1J #peds

2 years ago...

Tennessee PKU Foundation

tennesseepku.org — “Tennessee PKU Foundation - Tennessee's PKU CommunityView full resource at tennesseepku.org

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Most Recently Shared on August 19, 2011 at 2:16 pm By:

MOGAobgyn M.O.G.A. Physician Group

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

9 months ago...

PKU Home - Patient Power

patientpower.info — “PKU Home - Patient PowerView full resource at patientpower.info

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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

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Most Recently Shared on April 21, 2010 at 10:35 pm By:

SusanS_Health Susan Scroggins Active Health Library and Health Advocate

Phenylketonuria (PKU) is detected by screening newborns. What is PKU, what are the causes and symptoms? http://bit.ly/auX3EY

2 years ago...

Phenylketonuria (PKU) - PKU Organization of Illinois & Allied Disorders - Patient Power

patientpower.info — “Phenylketonuria (PKU) - PKU Organization of Illinois & Allied Disorders - Patient PowerView full resource at patientpower.info

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Most Recently Shared on March 9, 2011 at 4:41 pm By:

patientpower Andrew Schorr Support

Great news for patients. PKU Organization of Illinois now has their own Patient Power Player. http://goo.gl/3tlbM

1 year ago...

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

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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

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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 LevyView full resource at thelancet.com

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Neurology_OW Neurology OW OW Health

[Correspondence] Phenotyping and treatment of phenylketonuria – Authors' reply: We acknowledged in our paper t... http://bit.ly/elwExG

1 year ago...

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

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SeniorHealth_OW Senior Health OW OW Health

Fruits for a PKU Diet: Phenylketonuria (PKU) is a genetic disorder that affects 1 in 25,000 Americans, ... http://bit.ly/eEFWUD #seniors

1 year ago...

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

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Most Recently Shared on March 25, 2011 at 6:23 am By:

HealthPassion HealthPassion Health News

The Methods of PKU Determination: Phenylketonuria (PKU) is a genetic condition that is inherited from both paren... http://bit.ly/fZT39S

1 year ago...

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 findView full resource at medicalnewstoday.com

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Most Recently Shared on January 22, 2010 at 3:20 pm By:

mnt_neurology MNT Neurology News Neurology and Health News

Adults With Genetic Disorder PKU Need To Get Back To The Clinic: Genetic researchers at Children's Memorial Hosp.. http://bit.ly/15hq9d

2 years ago...

Adult with PKU Thriving: My Parents Deserve the Credit - Patient Power

patientpower.info — “Adult with PKU Thriving: My Parents Deserve the Credit - Patient PowerView full resource at patientpower.info

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Most Recently Shared on November 3, 2010 at 8:55 pm By:

patientpower Andrew Schorr Support

New Powerful Patient Story - Adult with PKU Thriving: My Parents Deserve the Credit #PKU http://goo.gl/pukmu

2 years ago...

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 RomaniaView full resource at symposier.com

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Most Recently Shared on March 8, 2011 at 9:48 pm By:

SympoEndocrino Symposier Endocrino Health Site

Unequal access to neonatal screening for Phenylketonuria patients in Romania. http://bit.ly/f3gprP

1 year ago...

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 HealthView full resource at refresheverything.com

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Most Recently Shared on August 26, 2010 at 2:42 pm By:

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

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Most Recently Shared on August 5, 2010 at 4:05 pm By:

mnt_endocrine MNT Endocrinology Health News

Encouraging Preliminary Safety And Efficacy Trends In Phase 2 Clinical Study Of PEG-PAL In PKU http://mnt.to/3H29 #endocrinology

2 years ago...

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