{"id":13146,"date":"2024-08-23T04:26:43","date_gmt":"2024-08-23T02:26:43","guid":{"rendered":"https:\/\/valintermed.com\/?p=13146"},"modified":"2024-08-23T04:26:43","modified_gmt":"2024-08-23T02:26:43","slug":"defitsit-triozofosfatizomerazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/triazofosfatizomerazy-deficiency\/","title":{"rendered":"Triosephosphate isomerase deficiency"},"content":{"rendered":"
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Triose phosphate isomerase deficiency (TPIS) is a rare genetic disorder associated with carbohydrate metabolism disorder caused by deficiency of the enzyme triose phosphate isomerase. This enzyme, a key enzyme in the pentose phosphate pathway and glycolysis, plays an important role in the conversion of sucrose and other carbohydrates into energy needed for metabolic processes. The pathology leads to a disruption of carbohydrate metabolism and the accumulation of intermediate metabolites, as a result of which patients may experience a variety of clinical manifestations, including growth failure, muscle weakness, and other symptoms associated with metabolic disorders.<\/p>\n

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