Tag: GALC deficiency

  • Sphingolipidosis, Krabbe’s Type

    Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…

  • Galactocerebrosidase (GALC) Deficiency

    Galactocerebrosidase (GALC) Deficiency Definition and Description of Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency of the galactocerebrosidase enzyme. This enzyme is essential for the breakdown of galactolipids, which are crucial components of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. The…