Tag: Ashkenazi Jews
Norrbottnian Gaucher Disease
Norrbottnian Gaucher Disease: Definition and Description of Norrbottnian Gaucher Disease: Norrbottnian Gaucher Disease is a rare genetic disorder, a variant of Gaucher disease, characterized by the deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of fatty substances in various organs, notably the spleen, liver, bones, and bone marrow. It is named after the…
Glucocerebrosidosis
Glucocerebrosidosis Definition and Description of Glucocerebrosidosis Glucocerebrosidosis, also known as Gaucher’s disease, is a rare genetic disorder caused by the accumulation of glucocerebroside due to a deficiency of the enzyme glucocerebrosidase. This enzyme is essential for the breakdown of glucocerebroside, a fatty substance found in cells. The condition leads to the enlargement of organs such…
Gangliosidosis GM2 Type 2
Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…