Tag: lysosomal storage disorder
Multiple Sulfatase Deficiency
Multiple Sulfatase Deficiency: Definition and Description of Multiple Sulfatase Deficiency: Multiple Sulfatase Deficiency (MSD) is a rare lysosomal storage disorder characterized by the deficient activity of arylsulfatase enzymes, which are essential for the breakdown of sulfated compounds in the body. This condition leads to the accumulation of unmetabolized substrates in various tissues, resulting in a…
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…