Guanidinoacetate methyltransferase deficiency
Other Names for this Disease
- GAMT deficiency
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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.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,
Last updated: 11/9/2015
- 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.
- Guanidinoacetate methyltransferase deficiency. Genetics Home Reference. June 2015; http://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency.
- Genetics Home Reference (GHR) contains information on Guanidinoacetate methyltransferase deficiency. This website is maintained by the National Library of Medicine.
- 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.