Tag: autosomal recessive

  • 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…

  • Galactocerebrosidase Deficiency

    Galactocerebrosidase Deficiency Definition and Description of Galactocerebrosidase Deficiency Galactocerebrosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is vital for the breakdown of specific fats in the brain and other tissues. This deficiency leads to the…