Tag: glucocerebrosidase

  • 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…

  • Infantile Gaucher Disease

    Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…

  • Glucocerebrosidosis

    Glucocerebrosidosis Definition and Description of Glucocerebrosidosis Glucocerebrosidosis, also known as Gaucher’s disease, is a rare genetic disorder caused by the accumulation of glucocerebroside due to a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in cells. The condition leads to the enlargement of organs such…

  • Gaucher-Schlagenhaufer

    Gaucher-Schlagenhaufer Definition and Description of Gaucher-Schlagenhaufer Gaucher-Schlagenhaufer is a rare genetic disorder stemming from the deficiency of the enzyme glucocerebrosidase. This deficiency leads to the accumulation of harmful substances in various organs, particularly the spleen, liver, bones, and, in some cases, the brain. The disease can manifest in various forms, primarily categorized into Type 1…