{"id":11309,"date":"2025-07-27T01:31:04","date_gmt":"2025-07-26T23:31:04","guid":{"rendered":"https:\/\/valintermed.com\/?p=11309"},"modified":"2025-07-27T01:31:04","modified_gmt":"2025-07-26T23:31:04","slug":"bolezn-goshe-1-tipa","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/sick-goshe-type-1\/","title":{"rendered":"Gaucher disease type 1"},"content":{"rendered":"
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Gaucher disease type 1 (BG-1) is a genetic disorder characterized by a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of the substrate glucocerebroside in macrophages and other cells of organs such as the liver, spleen, bone marrow, and lungs. This disease belongs to the group of lipidoses and has an autosomal recessive type of inheritance. Chronic accumulation of glucocerebroside causes various clinical manifestations associated with damage to various body systems. The main symptoms include hepatomegaly, splenomegaly, anemia, thrombocytopenia, and bone pain. Gaucher disease type 1 can manifest itself in early childhood or later in life, but has its own individual characteristics of manifestation and progression depending on the specific case.<\/p>\n

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