Question
I am preparing for a prenatal check-up and would like to understand my body condition, particularly the types of genetic metabolic diseases.
Answer
There are many types of genetic metabolic diseases, which can be categorized into different types based on individual conditions. These diseases are caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers, and membrane pumps necessary for normal metabolism, which result from mutations in the genes encoding these polypeptides (proteins). These diseases are also known as genetic metabolic abnormalities or congenital metabolic defects. They include metabolic diseases involving large molecules, such as lysosomal storage disorders (about thirty types of diseases) and mitochondrial diseases. Prenatal screening can help identify the presence of these genetic diseases, allowing for appropriate preventive measures to be taken.