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| Term | AGAT deficiency | ID (Ontology) | DOID:0050712 (Human Disease) |
| Definition | An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. | ||
| Also Known As | "arginine glycine amidinotransferase deficiency" ; "Cerebral creatine deficiency syndrome 3" | ||
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autosomal genetic disease |__autosomal recessive disease____________ amino acid metabolic disorder | |__cerebral creatine deficiency syndrome__| AGAT deficiency |
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| Is a |
autosomal recessive disease cerebral creatine deficiency syndrome |
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| MIM:612718 | |||