{"id":11322,"date":"2025-07-27T00:56:16","date_gmt":"2025-07-26T22:56:16","guid":{"rendered":"https:\/\/valintermed.com\/?p=11322"},"modified":"2025-07-27T00:56:16","modified_gmt":"2025-07-26T22:56:16","slug":"galaktozemiya","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/galactosemia\/","title":{"rendered":"Galactosemia"},"content":{"rendered":"
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Galactosemia is a hereditary metabolic disorder associated with impaired metabolism of galactose, sucrose, and lactose in the body. In this disorder, one of the enzymes involved in galactose metabolism is absent or insufficiently active, most often galactose-1-phosphate uridyltransferase. As a result of the accumulation of galactose and its derivatives, in particular galactose-1-phosphate, toxic changes occur, leading to damage to organs and systems, especially the central nervous system, liver, and kidneys. The main clinical manifestations include jaundice, vomiting, diarrhea, growth and developmental disorders, as well as the risk of serious molecular and morphological changes in the body if the disease is not diagnosed and treated in time.<\/p>\n

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