Is genetic metabolic disease serious? Can metabolic diseases be cured?

Bubles 2022-03-31

Is genetic metabolic disease serious? Can metabolic diseases be cured?

The clinical symptoms of hereditary metabolic diseases are diverse and atypical.

Anemia (e.g., propionic acid, methylmalonic acid inhibits bone marrow hematopoiesis), inherited metabolic disorders acidosis, vomiting, jaundice, hypoglycemia, electrolyte disorders, etc. In severe cases, it can lead to death and disability (mainly in infants and children, where metabolic toxins inhibit the development of the nervous system).

Can metabolic diseases be cured?

Genetic metabolic diseases are a series of related metabolic diseases caused by genetic and chromosomal mutations.

However, this disease can be completely predicted through prenatal diagnosis or newborn screening for metabolic diseases, and the effects of metabolic toxins can be prevented or eliminated through continuous dietary changes and medications.

Genetic and metabolic diseases are preventable and controllable diseases. Prenatal screening of the mother during pregnancy.

Newborns are screened with heel blood tandem mass spectrometry under appropriate conditions (48-72 hours after birth and 6-8 hours after feeding).

For children who are not screened, clinical signs such as acute metabolic encephalopathy (lethargy, muscle weakness, etc.), hyperammonia, metabolic acidosis, hypoglycemia, jaundice, etc. should be suspected as genetic metabolic diseases, and

Early detection, early intervention, and early detection of amino acid carnitine and urine organic acid profile to avoid misdiagnosis of cerebral palsy and other serious sequelae.