Patient's question:
I want to have a child with my wife. In these days, I'm preparing to go for a pre-pregnancy check-up to see if there are any problems with my body, and I also want to know if there are any genetic metabolic diseases. What specific diseases are there?Doctor's answer:
The types of genetic metabolic diseases are complex and can be categorized based on specific body conditions. Genetic metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers, and membrane pumps composed of peptides and/or proteins that are essential for maintaining normal body metabolism, specifically due to mutations in the genes encoding these peptides (proteins). They are also known as genetic metabolic disorders or congenital metabolic defects. Genetic metabolic diseases are a type of genetic disorder characterized by metabolic dysfunction, mostly inherited in a single-gene manner, including diseases of metabolic macromolecules such as lysosomal storage diseases (over thirty types) and mitochondrial diseases, among others.