Tag: substrate reduction therapy

  • Sphingolipidosis 1

    Sphingolipidosis 1: Definition and Description of Sphingolipidosis 1: Sphingolipidosis 1, often referred to as sphingolipidosis, is a group of inherited metabolic disorders that affect the brain, spinal cord, and other organs. These conditions are characterized by the accumulation of sphingolipids—complex lipids that play vital roles in cell signaling and the protective coatings of nerve cells.…

  • Norrbottnian Gaucher Disease

    Norrbottnian Gaucher Disease: Definition and Description of Norrbottnian Gaucher Disease: Norrbottnian Gaucher Disease is a rare genetic disorder, a variant of Gaucher disease, characterized by the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of fatty substances in various organs, notably the spleen, liver, bones, and bone marrow. It is named after the…

  • Gaucher Disease

    Gaucher Disease Definition and Description of Gaucher Disease Gaucher Disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in the body. When it is not functioning properly, glucocerebroside accumulates in certain cells, leading to a variety of…