Genetic metabolic disease

Genetic and metabolic diseases are mostly single-gene genetic diseases, including metabolic macromolecular diseases: including lysosomal storage disease (more than thirty diseases), mitochondrial diseases, etc., and metabolic small molecular diseases: amino acids, organic acids, fatty acids, etc . Part of the cause of genetic metabolic disease is caused by genetic inheritance, and part of it is caused by acquired genetic mutation. The onset period is not only newborns, but also covers all ages. More than 500 species have been discovered so far, including Gaucher disease, Falburi disease, phenylketonuria, and methylmalonic acidemia.

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