Other Names for this Disease
- Hyperglycinemia nonketotic
- Nonketotic hyperglycinemia
- Glycine synthase deficiency
- Non-ketotic hyperglycinemia
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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.Glycine encephalopathy is an inherited condition characterized by abnormally high levels of an
Last updated: 11/10/2011
- Glycine encephalopathy. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition/glycine-encephalopathy. Accessed 10/28/2011.
- Hamosh A, Scharer G, Van Hove J. Glycine encephalopathy. GeneReviews. November 2009; http://www.ncbi.nlm.nih.gov/books/NBK1357/. Accessed 11/10/2011.
- Genetics Home Reference (GHR) contains information on Glycine encephalopathy. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Glycine encephalopathy. Click on the link to view a sample search on this topic.