What is neonatal screening for metabolic diseases and what are the screening items?

What is neonatal screening for metabolic diseases and what are the screening items?

Nowadays, babies born in hospitals or maternity homes are screened for newborn genetic metabolic diseases. So, metabolic diseases list what is neonatal metabolic screening?

Some diseases have no clear clinical manifestation in the neonatal period or early infancy, but do change silently and irreversibly in a latent form.

Early detection of the problem can help to avoid the sequelae of mental retardation after development. The earliest screening for congenital metabolic disorders in newborns was for phenylketonuria and congenital hypothyroidism.

The two most basic disorders are phenylketonuria and congenital hypothyroidism, because both of these disorders are not treated in time and increase the rate of disability in adulthood.

Early diagnosis and early intervention are required. For example, in China, low-phenylalanine formula has been developed since 1986. Feeding low-phenylalanine formula can greatly reduce the accumulation of abnormal metabolic products in children with phenylketonuria, thereby reducing brain toxicity.

The timely supplementation of levothyroxine sodium tablets in children with congenital hypothyroidism can replace the deficiency and prevent the occurrence of developmental delay, mental retardation and retardation.

With the development of newborn screening technology, more and more diseases can be screened for, including phenylketonuria, congenital hypothyroidism, galactosemia, thalassemia, congenital adrenal hyperplasia, glucose-6-phosphatase (G6PD) deficiency, and streptocytic anemia.

Screening for these diseases requires specialized skills and personnel, is expensive, has a low incidence of disease, and is not performed in all areas. In general, thalassemia is a routine screening in areas with a high prevalence of certain diseases.

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