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Pathway Description
Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-03
Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of creatine metabolism caused by a defective guanidinoacetate methyltransferase (GAMT). GAMT catalyzes the conversion of guanidinoacetate into creatine which is used by creatine kinase to resynthesize adenosine triphosphate (ATP) from adenosine diphosphate (ADP). This disease is characterized by a large accumulation of guanidinoacetate and a decrease in creatine in the blood and urine. Symptoms of the disease include developmental delay, hypotonia, and seizures. Treatment with creatine supplementation is very effective. It is estimated that GAMT deficiency affects 1 in 250 000 individuals.
References
Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency References
[Metagen: CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=349)
[OMIM: 601240](http://omim.org/entry/601240})
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Pubmed: 25865492
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