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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly.</p><p>GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Guanidinoacetate methyltransferase deficiency?"},{"bodyHtml":"<p>People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"guanidinoacetate-methyltransferase-deficiency","sourceDocuments":[{"name":"Guanidinoacetate methyltransferase deficiency","reviewed":"2011-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:59.423381+00:00","label":"Causes","pageSha256":"d644369cabea0527399028d375e32566ee38dbbbbcbb1979ed23ca959609672d","sourceUrl":"https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/guanidinoacetate-methyltransferase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Guanidinoacetate methyltransferase deficiency"},"schemaVersion":1}