Tag: Krabbe disease

  • 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 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…

  • Galactocerebroside Beta-Galactosidase Deficiency

    Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency Definition and Description of Galactocerebroside Beta-Galactosidase Deficiency Galactocerebroside Beta-Galactosidase Deficiency, also known as Krabbe disease, is a rare genetic disorder that primarily affects the nervous system. This condition is characterized by the deficiency of the enzyme galactocerebrosidase (GALC), responsible for breaking down galactolipids in the myelin sheath. Without this…