Gaucher disease is an autosomal recessive genetic metabolic disorder due to an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, resulting in the deposition of glucocerebroside and its components. The clinical symptoms are different depending on the type of the disease, but it is usually hepatosplenomegaly or damage to the central nervous system.Laboratory diagnosis can use routine analyzes such as ferritin, HDL, vitamin b12, folate, serum iron, but also specialized ones such as serum protein electrophoresis as well as immunofixation for the typing of immunoglobulins.Through this work, we will shed light on the interest of serum protein electrophoresis in the biological orientation of the biology diagnosis of Gaucher disease, and this through case illustrations.Confirmatory laboratory diagnosis is based on DNA analysis and / or enzymatic analysis of white blood cells, and by demonstrating a decrease in β-glucosidase activity...
Show abstract
Full Text
