Genetic metabolic diseases are diseases that result from the accumulation of abnormal metabolic products or the lack of important physiologically active substances due to defects in the genetic metabolic pathway, metabolic diseases list leading to the corresponding clinical symptoms.
Genetic metabolic disorders involve abnormal metabolism of amino acids, organic acids, fatty acids, urea cycle, carbohydrates, steroids, metals, vitamins, and other substances, and can lead to damage to a variety of systems.
The incidence of individual genetic metabolic disorders is low, but there are many different types of genetic disorders, and the total incidence is not low.
Why should I be screened for genetic metabolic diseases?
The key to preventing and treating genetic and metabolic diseases is early diagnosis and early treatment.
Metabolic screening and prenatal diagnosis are key to prevent congenital genetic metabolic disorders!
Neonatal screening for genetic metabolic disorders is essential! It allows screening for congenital and genetic disorders that endanger the life of the child, threaten the child's growth and development, or cause intellectual disability in children, so that early screening, diagnosis and treatment can be performed.
For parents who have already given birth to a baby with a genetic metabolic disease, non-genetic metabolic disease embryos can be selected through triple in vitro fertilization, provided that the cause of the preexisting condition is clear and the genetic diagnosis is definite.
Fetal diagnosis can be made by biochemical or genetic analysis to avoid the birth of a fatal child; screening and early treatment after birth are key.