{"id":13129,"date":"2024-08-23T04:45:37","date_gmt":"2024-08-23T02:45:37","guid":{"rendered":"https:\/\/valintermed.com\/?p=13129"},"modified":"2024-08-23T04:45:37","modified_gmt":"2024-08-23T02:45:37","slug":"tmem165-cdg","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/tmem165-cdg\/","title":{"rendered":"TMEM165-CDG"},"content":{"rendered":"
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TMEM165-CDG, or TMEM165 glycosyltransferase dysfunction, is a rare genetic disorder belonging to the group of glycosylation diseases (CDG). This disease is associated with a defect in the synthesis of carbohydrates and their precursors, leading to the accumulation of unidentified uncomplicated oligomers and useless glycoproteins in cells. TMEM165-CDG is an autosomal recessive disease and is characterized by multiple clinical manifestations, including neurological and rare systemic disorders. These disorders can range from mild to severe, and their symptoms can include growth failure, cardiovascular pathologies, as well as liver and kidney pathologies.<\/p>\n

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