{"id":12674,"date":"2024-10-11T17:38:38","date_gmt":"2024-10-11T15:38:38","guid":{"rendered":"https:\/\/valintermed.com\/?p=12674"},"modified":"2024-10-11T17:38:38","modified_gmt":"2024-10-11T15:38:38","slug":"sindrom-pena-shokeyra-tip-2","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/sindrom-pena-shokeyra-tip-2\/","title":{"rendered":"Pena-Shokeir syndrome type 2"},"content":{"rendered":"
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Pena-Chokeir syndrome type 2 (PS-2) is a rare genetic disorder belonging to a group of metabolic disorders caused by mutations in the genes responsible for fructose metabolism. This disease is characterized by a deficiency of the enzyme aldatase B, which leads to abnormal accumulation of fructose metabolites in the body. The main clinical manifestations of PS-2 include hypoglycemia, jaundice, vomiting, and liver and kidney dysfunction. The pathology can lead to severe and sometimes life-threatening conditions if diagnosis and treatment are not started in a timely manner. Given the variety of symptoms and their potential severity, PS-2 requires careful clinical monitoring and an interdisciplinary approach to therapy.<\/p>\n

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