Tag: Ashkenazi Jewish
Tay-Sachs Disease
Tay-Sachs Disease: Definition and Description of Tay-Sachs Disease: Tay-Sachs Disease is a rare, genetic disorder caused by the absence of a vital enzyme called Hexosaminidase A (Hex-A). This enzyme is essential for breaking down a fatty substance known as GM2 ganglioside in the brain and nerve cells. When Hex-A is deficient, GM2 gangliosides accumulate to…
Gaucher Disease
Gaucher Disease Definition and Description of Gaucher Disease Gaucher Disease is a rare genetic disorder caused by a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in the body. When it is not functioning properly, glucocerebroside accumulates in certain cells, leading to a variety of…
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…
Canavan Disease
Canavan Disease Definition and Description of Canavan Disease Canavan Disease is a rare genetic disorder categorized as a type of leukodystrophy, characterized by the progressive degeneration of the brain’s white matter. It occurs due to a deficiency of the enzyme aspartoacylase, which is essential for metabolizing N-acetyl aspartate (NAA), a compound found in myelin and…