What do galactosemia ansd Tay-Sachs disease have in common?

Both galactosemia and Tay-Sachs disease are inherited metabolic disorders.

Galactosemia is an inborn error of metabolism that affects the body's ability to metabolize the sugar galactose. If untreated, galactosemia can lead to liver damage, cataracts, and intellectual disability.

Tay-Sachs disease is a lysosomal storage disease caused by a deficiency of the enzyme hexosaminidase A. Hexosaminidase A is responsible for breaking down a fatty substance called GM2 ganglioside. When GM2 ganglioside accumulates in the brain, it can damage nerve cells and lead to intellectual disability, seizures, and blindness.

Both galactosemia and Tay-Sachs disease are caused by mutations in genes.

The gene that is mutated in galactosemia is called the GALT gene. The GALT gene provides instructions for making the enzyme galactose-1-phosphate uridyl transferase (GALT). GALT is an enzyme that is necessary for the metabolism of galactose.

The gene that is mutated in Tay-Sachs disease is called the HEXA gene. The HEXA gene provides instructions for making the enzyme hexosaminidase A. Hexosaminidase A is an enzyme that is necessary for the breakdown of GM2 ganglioside.

Both galactosemia and Tay-Sachs disease can be treated.

Galactosemia can be treated by avoiding foods that contain galactose. Tay-Sachs disease can be treated with enzyme replacement therapy. Enzyme replacement therapy involves replacing the missing enzyme with a healthy copy of the enzyme.