Can genetic metabolic diseases be treated? Gene therapy can be tried

Mar 31 - 2022

Can genetic metabolic diseases be treated? Gene therapy can be tried

(1) congenital amino acid metabolic abnormalities for certain amino acid metabolic processes caused by different enzymatic defects in the disease, inherited metabolic disorders you can use a low-protein diet or restrict the intake of metabolic abnormalities amino acids.

The purpose of a low-protein diet is to reduce the protein content of food, reduce the degree of metabolic disorders, prevent or reduce clinical symptoms.

Low-protein diet therapy needs to be applied on a long-term basis. Therefore, the growth rate and serum albumin level of the child should be checked regularly to avoid protein deficiency.

Restrict the intake of amino acids, i.e., reduce the metabolism of abnormal amino acids in the diet to prevent the accumulation of abnormal metabolic products. In the course of dietary therapy, it is advisable to regularly measure the blood concentration of the amino acids involved as a criterion for the appropriateness of dietary therapy.

In practice, a variety of special amino acid products or synthetic diets can be used to strictly control the type of food for children.

Some congenital metabolic abnormalities are due to a barrier in the conversion of vitamins to active coenzymes, and therefore metabolic defects can be improved and clinical symptoms alleviated by supplementation with high doses of vitamins.

As a coenzyme, vitamins can be used to treat a number of amino acid metabolic disorders. For example, homocysteinemia can be treated with high doses of vitamin B6.

The ideal treatment for yeast storage disease is supplementation with specific enzymes that can alter some biochemical processes, but in practice it is very difficult and is still commonly used in clinical treatment, such as anticonvulsant therapy.

(3) In congenital glucose metabolism abnormalities, long-term treatment is mainly dietary, i.e., absolute avoidance of foods that accumulate harmful metabolites. For galactosemia, avoid foods containing lactose.

With the development of biogenetics, genetic engineering to control congenital metabolic abnormalities, trying to change genes and their products is the direction of treatment of congenital metabolic diseases.