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Diseases

Genetic and Rare Diseases Information Center (GARD)

L-arginine:glycine amidinotransferase deficiency


Other Names for this Disease
  • AGAT deficiency
  • Arginine:glycine amidinotransferase deficiency
  • Creatine deficiency syndrome due to AGAT deficiency
  • GATM deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate.[1][2]
Last updated: 11/18/2015

References

  1. Arginine:glycine amidinotransferase deficiency. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency.
  2. Saadet Mercimek-Mahmutoglu, MD, FCCMG, Sylvia Stöckler-Ipsiroglu, MD, PhD, MBA,FRCPC, and Gajja S Salomons, PhD. Creatine Deficiency Syndromes. GeneReviews. August 2011; http://www.ncbi.nlm.nih.gov/books/NBK3794/#creatine.Management.
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Basic Information

  • Genetics Home Reference (GHR) contains information on L-arginine:glycine amidinotransferase deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 L-arginine:glycine amidinotransferase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AGAT deficiency
  • Arginine:glycine amidinotransferase deficiency
  • Creatine deficiency syndrome due to AGAT deficiency
  • GATM deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.