Benign Hyperphenylalaninemia

Common Name(s)

Benign Hyperphenylalaninemia

Benign hyperphenylalannemia (H-PHE) is a rare genetic condition resulting from a mutation (error) in a person’s DNA. People with H-PHE are unable to breakdown the amino acid phenylalanine. It is an amino acid disorder. The protein we get from food is broken down into its amino acids (its building blocks). We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid may not be broken down. The buildup of the amino acid can damage our body. In this case there is not enough of the enzyme, phenylalanine hydroxylase (PAH). A baby with H-PHE thus can break down phenylalanine but not as quickly as a baby whose has enough PAH.

Changes in the PAH gene cause H-PHE and it is an autosomal recessive condition. H-PHE is a less severe form of classic phenylketonuria (PKU) because less phenylalanine builds up. Due to this, babies with H-PHE usually do not show any signs or symptoms. If a baby were to show signs, the symptoms may include mild intellectual difficulties and developmental delays, irritated skin, or vomiting. H-PHE may be treated with a special diet which limits the amount of phenylalanine that goes into the body. Early diagnosis and treatment have been shown to be effective in improving the health of individuals affected by this condition. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Benign Hyperphenylalaninemia" for support, advocacy or research.

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Children's PKU Network

CPN is a non-profit organization dedicated to maintaining an agenda of public awareness, education and direct assistance through a variety of programs, to help people with PKU and other metabolic disorders reach their full potential.

Last Updated: 29 May 2015

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 29 May 2015

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National PKU Alliance

The National PKU Alliance works to improve the lives of individuals and families with PKU and pursue a cure.

Last Updated: 29 May 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Benign Hyperphenylalaninemia" for support, advocacy or research.

Logo
Children's PKU Network

CPN is a non-profit organization dedicated to maintaining an agenda of public awareness, education and direct assistance through a variety of programs, to help people with PKU and other metabolic disorders reach their full potential.

http://www.pkunetwork.org

Last Updated: 29 May 2015

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 29 May 2015

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National PKU Alliance

The National PKU Alliance works to improve the lives of individuals and families with PKU and pursue a cure.

http://npkua.org/

Last Updated: 29 May 2015

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Benign Hyperphenylalaninemia" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Benign Hyperphenylalaninemia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.