Thelansis

  Sphingolipidoses are a group of inherited metabolic storage disorders characterized by the accumulation of glycosphingolipids and phosphosphingolipids, which share a hydrophobic ceramide component in their structure. Hydrolases degrade these lipids within lysosomes, where sequential removal of their structural components occurs. Deficiencies in these hydrolases result in the inability to degrade complex lipids and accumulate ceramides, causing damage to various tissues and organs, particularly the central nervous system, and leading to symptoms such as neurodegeneration, mental retardation, and psychomotor retardation. Sphingolipidoses are classified based on the accumulation of specific lipids. The various sphingolipidoses are caused by genetic defects in the lysosomal hydrolases or their activator proteins, leading to impaired degradation of sphingolipids. A diagnosis is made through clinical examination, measurement of lysosomal enzyme activities in blood cells or skin fibro...

 Sphingolipidoses are a group of inherited metabolic storage disorders characterized by the accumulation of glycosphingolipids and phosphosphingolipids, which share a hydrophobic ceramide component in their structure. Hydrolases degrade these lipids within lysosomes, where sequential removal of their structural components occurs. Deficiencies in these hydrolases result in the inability to degrade complex lipids and accumulate ceramides, causing damage to various tissues and organs, particularly the central nervous system, and leading to symptoms such as neurodegeneration, mental retardation, and psychomotor retardation. It is classified based on the accumulation of specific lipids. The various sphingolipidoses are caused by genetic defects in the lysosomal hydrolases or their activator proteins, leading to impaired degradation of sphingolipids. A diagnosis is made through clinical examination, measurement of lysosomal enzyme activities in blood cells or skin fibroblasts, and geneti...