Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
The genetic defect causes a deficiency of the enzyme glucocerebrosidase that is responsible for breaking down a certain type of fat and releasing it from fat cells.
Wolman's disease is caused by a genetic defect (with a recessive pattern of inheritance) that results in deficiency of an enzyme that breaks down cholesterol.
No obesity causes deficiency disease x
Tay-Sachs disease (TSD) is a fatal condition caused by a deficiency of the enzyme hexosaminidase A (Hex-A).
Krabbe's disease is caused by a deficiency of the enzyme galactoside beta-galactosidase.
Secondary enzyme deficiency is caused by factors such as disease, medication, or surgery that disrupt normal enzyme function. These factors can lead to a reduction in the production or activity of enzymes, resulting in deficiency and impaired biochemical reactions in the body.
A deficiency of insulin causes diabetes mellitus.
In Tay-Sachs disease, a mutation that affects the alpha subunit of the enzyme causes a deficiency in HexA. Sandhoff disease is caused by mutations that affect the beta subunit, rendering both the HexA and HexB enzymes deficient.
Refsum's disease is caused by a deficiency of phytanic acid hydroxylase, an enzyme that breaks down a fatty acid called phytanic acid.
it is a characteristic manifestation of deficiency of ESSENTIAL FATTY ACIDS (LINOLEIC & LINOLENIC ACIDS).
The gene that causes Tay-Sachs disease normally provides instructions for making an enzyme called hexosaminidase A. This enzyme helps break down a fatty substance called GM2 ganglioside. Mutations in this gene lead to a deficiency in hexosaminidase A, causing the buildup of GM2 ganglioside in cells, which leads to the symptoms of Tay-Sachs disease.
The drug cerezyme is prescribed for people who have Type 1 Gaucher disease because they have a deficiency in the enzyme glucocerebrosidase. This can result in an enlarged spleen and bone disease.