Tag: hematopoietic stem cell transplantation

  • MPS Disorder I

    MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…

  • 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…

  • Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

    Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Definition and Description of Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is a rare genetic disorder characterized by the absence or dysfunction of the enzyme adenosine deaminase, which is crucial for the proper development and functioning of the immune system. This condition is categorized…