Screening and prenatal diagnosis are key to preventing congenital genetic metabolic diseases

1. What is a genetic metabolic disease?

inherited metabolic disorders are diseases with corresponding clinical symptoms caused by the accumulation of abnormal metabolic products or deficiency of important physiologically active substances due to defects in genetic metabolic pathways.

Genetic metabolic diseases involve abnormal metabolism of different amino acids, organic acids, fatty acids, urea for circulation, carbohydrates, steroids, metals, vitamins and other substances, which can lead to structural damage of several systems.

The incidence of individual genetic metabolic diseases is not high, but the diversity is diverse and the overall incidence is not low.

Why should I be screened for genetic metabolic diseases?

The key to prevention and treatment of genetic metabolic diseases is early diagnosis and early treatment.

The same disease can lead to severe acidosis, metabolic encephalopathy, and even neonatal death, but it can also be characterized by poor performance and poor response, and the differences in clinical performance and prognosis are closely related to the genotyping of the disease.

It is possible to prevent the occurrence of this disease by certain means, the key is early detection and early treatment.

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