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Diseases

Genetic and Rare Diseases Information Center (GARD)

Guanidinoacetate methyltransferase deficiency


Other Names for this Disease
  • GAMT deficiency
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Overview

Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.[1][2]
Last updated: 11/9/2015

References

  1. 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.
  2. Guanidinoacetate methyltransferase deficiency. Genetics Home Reference. June 2015; http://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Guanidinoacetate methyltransferase deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 Guanidinoacetate methyltransferase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GAMT 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.