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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. 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, arginine:glycine amidinotransferase controls the first step of the process. In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy properly.</p><p>GATM gene mutations impair the ability of the arginine:glycine amidinotransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of arginine:glycine amidinotransferase 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/arginineglycine-amidinotransferase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Arginine:glycine amidinotransferase deficiency?"},{"bodyHtml":"<p>Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"arginineglycine-amidinotransferase-deficiency","sourceDocuments":[{"name":"Arginine:glycine amidinotransferase deficiency","reviewed":"2011-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:28.399014+00:00","label":"Causes","pageSha256":"875ff6bccf4bdcb095bfe9db772f602753ef4dff2a592fda81bf5096258f200a","sourceUrl":"https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-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":"Arginine:glycine amidinotransferase deficiency"},"schemaVersion":1}