Also called: Also called: PKU
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.
National Institute of Child Health and Human Development
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Genetics Home Reference: Phenylketonuria
(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=phenylketonuria
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Phenylketonuria (PKU)(National Institute of Child Health and Human Development) - http://www.nichd.nih.gov/health/topics/phenylketonuria.cfm
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PKU(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1219.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9977.asp
- Phenylketonuria(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/phenylketonuria/DS00514/METHOD=print&DSECTION=all
- Is Aspartame Safe for My Child?(Nemours Foundation) - http://kidshealth.org/parent/food/question/aspartame.html
- Look-Alike Foods: A Solution or a Pandora's Box?(University of Washington PKU Clinic) - Links to PDF - http://depts.washington.edu/pku/pdfs/lookalike.pdf
- What Is the Diet for PKU?(University of Washington PKU Clinic) - http://depts.washington.edu/pku/diet.html
- How Is PKU Monitored?(University of Washington PKU Clinic) - http://depts.washington.edu/pku/monitor.html
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NIH Consensus Panel Recommends Comprehensive Approach to Life Long Care for PKU(National Institute of Child Health and Human Development) - http://www.nih.gov/news/pr/oct2000/omar-18.htm
- Babysitter's Guide to PKU(University of Washington PKU Clinic) - Links to PDF - http://depts.washington.edu/pku/pdfs/Babysitters_Guide_03.pdf
- Introduction to Drug Products Containing Phenylalanine(National PKU News) - http://www.pkunews.org/diet/aspartame.htm
- Questions and Answers about PKU(National PKU News) - http://www.pkunews.org/about/question.htm
- What Is Phenylketonuria (PKU)?(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/pku/whatisit.htm
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ClinicalTrials.gov: Phenylketonurias(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Phenylketonurias%22
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Genetics Home Reference: Phenylketonuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=phenylketonuria
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Genetics Home Reference: Tetrahydrobiopterin deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=tetrahydrobiopterindeficiency
- Article: Factors influencing outcomes in the offspring of mothers with phenylketonuria... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18779286&tool=MedlinePlus
- Article: Stuart Green's vignettes 5 and 6. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18705020&tool=MedlinePlus
- Article: Severity of virilization of external genitalia in Japanese patients with... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18679008&tool=MedlinePlus
- Phenylketonuria -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=phenylketonurias[majr]+AND+english[la]+AND+humans[mh]&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
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March of Dimes Birth Defects Foundation - http://www.marchofdimes.com/
Also available in Spanish http://www.nacersano.org/
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National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
- National PKU News - http://www.pkunews.org/
- Disorders Screened in State NBS Programs(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/statenbsprogramreport.htm
- State Laws and Policies: PKU(National PKU News) - http://web47.radiant.net/~pkunews/rights/lobby6.htm
- Essentials of PKU for Young Adults with PKU and Their Significant Others(University of Washington PKU Clinic) - http://depts.washington.edu/pku/essentials.html
- Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- Newborn Screening - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
- Brain and Nerves - http://www.nlm.nih.gov/medlineplus/brainandnerves.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Metabolic Problems - http://www.nlm.nih.gov/medlineplus/metabolicproblems.html
The primary NIH organization for research on Phenylketonuria is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/