Newborns should be analyzed and tested for genetic metabolic diseases by taking blood samples around 3 days after birth.
Parents of newborns with suspicious genetic metabolic diseases list test data should cooperate with the medical staff for regular review of their children as soon as possible.
Once a genetic metabolic disease is diagnosed, early intervention and treatment are required to prevent irreversible damage to the baby's vital organs and to normalize physical and intellectual development.
Phenylketonuria, congenital hypothyroidism, glucose 6 phosphatase deficiency, and congenital adrenocortical hyperplasia are the four most common genetic metabolic disorders.
Genetic and metabolic diseases have been expanded to 48 diseases screened for early treatment once diagnosed. For example, typical phenylketone disease is treated with a special diet, and congenital hypothyroidism is treated with thyroxine replacement therapy.
With the development of modern medical technology, more and more genetic diseases can be detected before pregnancy or birth through screening interventions.
Many genetic metabolic diseases can be screened, diagnosed and treated in the early stages of infancy, so that they can grow, read and work like normal children and contribute to the country and society.
The significance of screening is the early diagnosis and timely treatment of neonatal diseases to avoid or reduce disability and improve the quality of life of children.
Phenylketonuria and hypothyroidism, which are diseases with a very high incidence and significant treatment, the earlier they are detected, the more helpful it is to treat children.