{"id":12303,"date":"2024-10-11T23:53:13","date_gmt":"2024-10-11T21:53:13","guid":{"rendered":"https:\/\/valintermed.com\/?p=12303"},"modified":"2024-10-11T23:53:13","modified_gmt":"2024-10-11T21:53:13","slug":"defitsit-ornitintranslokazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/deficiency-of-ornithine-translocation\/","title":{"rendered":"Ornithine translocase deficiency"},"content":{"rendered":"
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Ornithine translocase deficiency (OTD) is a rare aristocratic amino acid deficiency that results in a metabolic disorder. The disorder is caused by insufficient activity of the enzyme ornithine translocase, which catalyzes the reaction necessary for the metabolism of arginine and ornithine. This leads to ammonia accumulation in the body, which can cause serious problems in the central nervous system, kidneys, and other organs. The clinical manifestations of OTL deficiency can range from mild to severe, and the above consequences arise mainly from accumulated toxicity, making early diagnosis and treatment especially important for an optimal prognosis.<\/p>\n

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