{"id":11383,"date":"2025-07-26T21:54:42","date_gmt":"2025-07-26T19:54:42","guid":{"rendered":"https:\/\/valintermed.com\/?p=11383"},"modified":"2025-07-26T21:54:42","modified_gmt":"2025-07-26T19:54:42","slug":"defitsit-glyukozo-6-fosfat-translokazy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/deficiency-of-glyukozhozo-6-phosphate-translocation\/","title":{"rendered":"Glucose-6-phosphate translocase deficiency"},"content":{"rendered":"
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Glucose-6-phosphate translocase deficiency, also known as Fabry disease, is a rare inherited disorder of lipid metabolism. It is caused by a deficiency of the enzyme alpha-galactosidase A, which is responsible for the breakdown of glycosphingolipids \u2013 especially glycolipase, leading to their accumulation in cells, primarily endothelial cells, epithelial cells and cells of the nervous system. This accumulation results in a variety of clinical manifestations that may include painful episodes, renal dysfunction, cardiac disease and neurological disorders. The condition requires a comprehensive approach to diagnosis and treatment, as well as careful monitoring to manage symptoms and improve the quality of life of patients.<\/p>\n

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