Home>Children Health Care

Newborn screening for inherited metabolic diseases (1)

Updated: 2020-07-24


1. What is newborn screening?

Newborn screening refers to the special examination of congenital and hereditary diseases that seriously endanger the health of newborns in the neonatal period, to provide early diagnosis and treatment of maternal and infant health care technology.

Diseases screened for newborns include neonatal inherited metabolic diseases and hearing impairments. Among these, screening of neonatal inherited metabolic diseases can cover dozens of neonatal inherited metabolic diseases with only a few drops of heel blood (blood taken from the heel), which is a very economical, efficient and valuable means of routine prevention and control of birth defects.

2. What are inherited metabolic diseases?

Inherited metabolic diseases are caused by mutations in the baby's genes, resulting in defects in the biosynthesis of enzyme receptors, carriers and membrane pumps in the normal metabolic process. The baby's body cannot decompose or synthesize the corresponding nutrients. The baby's normal physiological process has insufficient protective material, so the unnecessary or even harmful substances accumulate, increasing the burden on the baby's body. Thus, it triggered a series of metabolic diseases. Because these mutations occur at the genetic level and are hereditary, these diseases are called inherited metabolic diseases.

3. What do inherited metabolic diseases mainly include?

There are many kinds of inherited metabolic diseases and more than 3,000 kinds of diseases have been found; the incidence of single disease is low and the overall incidence is high. They can be divided into amino acid metabolic diseases, organic acid metabolic diseases, fatty acid oxidation disorders and other kinds of inherited metabolic diseases.

4. Why should screening for multiple inherited metabolic diseases be conducted?

Although the incidence of inherited metabolic diseases in a single disease species is not high, the overall incidence of these inherited metabolic diseases is as high as one in 3,000 -- that is, one in every 3,000 newborns has a genetic metabolic disease.

5. What are the hazards of inherited metabolic diseases?

The clinical symptoms of inherited metabolic diseases are diverse, and whole body organs can be involved. The common clinical manifestations are: feeding difficulties, abnormal nervous system, metabolic acidosis, severe vomiting, hepatomegaly or hepatic insufficiency, special odor, strange appearance, abnormal skin and hair, eye abnormalities, etc. Children with severe situations may manifest such conditions as acute encephalopathy, or suffer from a coma or even death, or severe complications such as cerebral palsy.

Such diseases may not have abnormal manifestations in the neonatal period. If there is no timely screening and diagnosis, some of the adverse consequences mentioned above will gradually occur with age -- causing irreversible damage to organs and body systems and because the best treatment opportunity has been lost, the outcome will be poor.

Newborn screening for inherited metabolic diseases (2)