Question
The baby was born six days ago, and the hospital sent information indicating that the preliminary screening result for genetic metabolic disease is indeterminate positive. Parents are concerned about the severity of the disease, as well as how common the incidence rate is. Are there any obvious symptoms? We are very worried about the baby’s health condition!!! Urgent!!!
Answer
Genetic metabolic diseases are disorders caused by hereditary biochemical metabolic defects, which may lead to abnormalities in enzymes, carrier proteins, membranes, or receptors that are essential for normal metabolism. For children with a preliminary positive screening, further diagnosis is necessary. The process of diagnosing genetic metabolic diseases primarily relies on the determination of metabolites and enzyme activity. The general principle of treatment for this disease is to reduce the accumulation of toxic substances caused by metabolic defects, supplement normal substances, enzymes, or perform gene therapy. Most genetic metabolic diseases can be controlled through dietary treatment, while some require treatment with vitamins, coenzymes, etc. Through symptomatic treatment, many diseases can be effectively controlled, allowing patients to lead a normal life in terms of study and work.