{"id":11316,"date":"2025-07-27T00:59:09","date_gmt":"2025-07-26T22:59:09","guid":{"rendered":"https:\/\/valintermed.com\/?p=11316"},"modified":"2025-07-27T00:59:09","modified_gmt":"2025-07-26T22:59:09","slug":"bolezn-nakopleniya-glikogena-tip-13","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/glycogen-storage-disease-type-13\/","title":{"rendered":"Glycogen storage disease type 13"},"content":{"rendered":"
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Glycogen storage disease type 13 (GSD-13) is a rare inherited disorder characterized by a disorder of carbohydrate metabolism, particularly glycogen. It results in an abnormal accumulation of glycogen in cells, primarily in the muscles and liver, due to a deficiency of the enzyme responsible for its breakdown. GSD-13 is caused by a mutation in the gene encoding the enzyme glycogen phosphorylase, which leads to a disorder of its function. Clinical manifestations of the disease can range from mild muscle weakness and fatigue to more severe impairment of cardiovascular function.<\/p>\n

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