{"id":11387,"date":"2025-07-26T21:29:22","date_gmt":"2025-07-26T19:29:22","guid":{"rendered":"https:\/\/valintermed.com\/?p=11387"},"modified":"2025-07-26T21:29:22","modified_gmt":"2025-07-26T19:29:22","slug":"defitsit-guanidinoatsetatmetiltransferazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/defitsit-guanidinoatsetatmetiltransferazy\/","title":{"rendered":"Guanidinoacetate methyltransferase deficiency"},"content":{"rendered":"
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Guanidinoacetate methyltransferase (GAMT) deficiency is a rare, inherited metabolic disorder. Deficiency of this enzyme results in a buildup of guanidinoacetate in the body, which in turn leads to metabolic disorders, particularly in the central nervous system. The disorder is classified as one of the creatine metabolism disorders, which causes neurological and psychiatric symptoms, including developmental delay, mental retardation, and epilepsy. GAMT deficiency is inherited in an autosomal recessive manner, meaning that two abnormal alleles, one from each parent, are required for the disorder to manifest.<\/p>\n

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