National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Phenylketonuria is not the name you expected.
Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (e.g., during routine neonatal screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine. (Amino acids, the chemical building blocks of proteins, are essential for proper growth and development.) With normal enzymatic activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue.
Symptoms associated with PKU are typically absent in newborns. Affected infants may be abnormally drowsy and listless (lethargic) and have difficulties feeding. In addition, untreated infants with PKU tend to have unusually light eyes, skin, and hair (light pigmentation) and may develop a rash that appears similar to eczema, an inflammatory skin condition that may be characterized by itching, redness, and blistering in affected areas.
Without treatment, most infants with PKU develop mental retardation that is typically severe. Those with untreated PKU may also develop additional neurologic symptoms, such as episodes of uncontrolled electrical activity in the brain (seizures), abnormally increased activity (hyperactivity), poor coordination and a clumsy manner of walking (gait), abnormal posturing, aggressive behavior, or psychiatric disturbances. Additional symptoms and findings may include nausea, vomiting, and a musty or "mousy" body odor due to the presence of a by-product of phenylalanine (phenylacetic acid) in the urine and sweat.
To prevent mental retardation, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life. Most experts suggest that a phenylalanine-restricted diet should be life-long in persons with classical PKU. Classical PKU refers to persons with 2 severe mutations of the phenylalanine hydroxylase gene.
Belgian Association for Metabolic Diseases
- Floralaan 35A
- Beveren, 9120
- Tel: 03 775 48 39
- Fax: 03 775 48 39
- Email: firstname.lastname@example.org
- Website: http://www.boks.be/site/index.php/
Children's PKU Network
- 3306 Bumann Rd
- Encinitas, CA 92024
- United States
- Tel: (858)756-0079
- Fax: (858)756-1059
- Tel: (800)377-6677
- Email: email@example.com
- Website: http://www.pkunetwork.org/
Cochrane Cystic Fibrosis and Genetic Disorders Group
- Institute of Child Health, University of Liverpool
- Alder Hey Children's NHS Foundation Trust
- Liverpool, L12 2 AP
- United Kingdom
- Tel: 441512525696
- Email: firstname.lastname@example.org
- Website: http://cfgd.cochrane.org
Cook for Love, Inc.
- 30 Seneca Street
- Dobbs Ferry, NY 10522
- Tel: (914)674-1025
- Email: email@example.com
- Website: http://www.cookforlove.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
- Tel: (801)587-9978
- Fax: (801)581-3899
- Email: email@example.com
- Website: http://www.medicalhomeportal.org
Mid-Atlantic Connection for PKU and Allied Disorders, Inc.
- PO Box 6086
- Lancaster, PA 17607-6086
- Tel: (717)872-7546
- Fax: (717)872-7546
- Email: firstname.lastname@example.org
- Website: http://www.macpad.org
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
National PKU Alliance
- P.O. Box 501
- Tomahawk, WI 54487-0501
- Tel: (715)437-0477
- Fax: (715)453-7670
- Email: email@example.com
- Website: http://www.npkua.org
National PKU News
- 6869 Woodlawn Avenue NE #116
- Seattle, WA 98115-5469
- Tel: (206)525-8140
- Fax: (206)525-5023
- Email: firstname.lastname@example.org
- Website: http://www.pkunews.org
- P.O. Box 896
- East Longmeadow, MA 1028
- Tel: (413)525-0204
- Email: Chris@ThePKUChallenge.com
- Website: http://www.ThePKUChallenge.com
Phenylalanine Hydroxylase Locus Knowledgebase
- McGill Univeristy Health Center
- Montreal Children's Hospital
- Monteral, Quebec, H3H 1P3
- Tel: 5144124400
- Fax: 5144124400
- Email: email@example.com
- Website: http://www.pahdb.mcgill.ca/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 5/1/2007
Copyright 2006 National Organization for Rare Disorders, Inc.
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