Question
I want to have a child with my wife, and I’m preparing to go for a pre-pregnancy check-up these days to see if there are any issues with my body. I’d like to know what genetic metabolic diseases there are?
Answer
There are many types of genetic metabolic diseases, classified according to specific conditions. Genetic metabolic diseases are disorders caused by genetic defects in certain enzymes, receptors, carriers, or membrane pumps necessary for the body’s metabolism. They are also known as genetic metabolic abnormalities or congenital metabolic defects. These diseases belong to monogenic genetic disorders and include various metabolic macromolecule diseases, such as lysosomal storage disorders and mitochondrial diseases.