Glycine Encephalopathy

Common Name(s)

Glycine Encephalopathy, Nonketotic Hyperglycinemia

Glycine encephalopathy is an inherited condition characterized by abnormally high levels of an amino acid called glycine. Glycine acts as a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body, thus allowing excess glycine to build up in tissues and organs, particularly the brain. Symptoms typically appear during infancy or early childhood and include a lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, breathing problems, seizures, and intellectual disability. It is caused by mutations in the AMT, GLDC or GCSH genes and is inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycine Encephalopathy" for support, advocacy or research.

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NKH International Family Network

NKH International Family Network's goal is to network and connect families by means of our website, newsletter, and member list, assist parents with support, advice and information on how to best care for their child/children with NKH, offer emotional and educational support to each other and to new families. Annual dues to be used for these goals of $20 are requested, however, any affordable amount is acceptable and no one will be denied if not affordable. All dues/donations can be sent to Judy Clifford.

Last Updated: 13 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycine Encephalopathy" for support, advocacy or research.

Logo
NKH International Family Network

NKH International Family Network's goal is to network and connect families by means of our website, newsletter, and member list, assist parents with support, advice and information on how to best care for their child/children with NKH, offer emotional and educational support to each other and to new families. Annual dues to be used for these goals of $20 are requested, however, any affordable amount is acceptable and no one will be denied if not affordable. All dues/donations can be sent to Judy Clifford.

http://www.NKH-Network.org

Last Updated: 13 Feb 2013

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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 "Glycine Encephalopathy" 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 "Glycine Encephalopathy" 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.