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Other Names for this Disease
- Glycine synthase deficiency
- Hyperglycinemia nonketotic
- Nonketotic hyperglycinemia
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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.
- Glycine encephalopathy. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/glycine-encephalopathy. Accessed October 28, 2011.
- Hamosh A, Scharer G, Van Hove J. Glycine encephalopathy. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1357/. Accessed November 10, 2011.
- Genetics Home Reference (GHR) contains information on Glycine encephalopathy. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glycine encephalopathy. Click on the link to go to OMIM and review these resources.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.