Phenylketonuria / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Phenylketonuria

Synonyms of Phenylketonuria

Classical Phenylketonuria
Hyperphenylalanemia
Phenylalanine Hydroxylase Deficiency
Phenylalaninemia
PKU

Disorder Subdivisions

General Discussion
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 lifelong in persons with classical PKU. Classical PKU refers to persons with 2 severe mutations of the phenylalanine hydroxylase gene.
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Organizations related to Phenylketonuria

Belgian Association for Metabolic Diseases (BOKS)
Alice Nahonlann 7
Melsele None 9120
Phone #: 323-775-4839
800 #: N/A
e-mail: [email protected]
Home page: http://www.boks.be
Children's PKU Network
3306 Bumann Rd.
Encinitas CA 92024
Phone #: 858-509-0767
800 #: 800-377-6677
e-mail: [email protected]
Home page: http://www.pkunetwork.org/
Cochrane Cystic Fibrosis and Genetic Disorders Review Group
Institute of Child Health
Liverpool None L12 2 AP
Phone #: +44- (0-) 1512525696
800 #: --
e-mail: [email protected]
Home page: http://www.liv.ac.uk/cfgd/
Cook for Love, Inc.
30 Seneca Street
Dobbs Ferry NY 10522
Phone #: 914-674-1025
800 #: N/A
e-mail: [email protected]
Home page: http://www.cookforlove.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
Mid-Atlantic Connection for PKU and Allied Disorders, Inc.
PO Box 6086
Lancaster PA 17607
Phone #: 717-872-7546
800 #: N/A
e-mail: [email protected]
Home page: http://www.macpad.org
NIH/National Institute of Child Health and Human Development
31 Center Dr
Bethesda MD 20892
Phone #: 301-496-5133
800 #: --
e-mail: N/A
Home page: http://www.nichd.nih.gov/
National Institute of Mental Retardation
York University
Ontario None M3J 1P3
Phone #: 416-661-9611
800 #: --
e-mail: N/A
Home page: N/A
National PKU News
6869 Woodlawn Avenue NE #116
Seattle WA 98115-5469
Phone #: 206-525-8140
800 #: --
e-mail: [email protected]
Home page: http://www.pkunews.org
Phenylalanine Hydroxylase Locus Knowledgebase (PAHdb)
McGill Univeristy Health Center
Monteral, Quebec None H3H 1P3
Phone #: 514-412-4417
800 #: --
e-mail: [email protected]
Home page: http://www.pahde.mcgill.ca

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html