What is the treatment of genetic metabolic diseases?6 methods to try
(a) Treatment principles: regulating the metabolic abnormalities caused by the disease, inherited metabolic disorders limiting the intake of relevant precursors...
(a) Treatment principles: regulating the metabolic abnormalities caused by the disease, inherited metabolic disorders limiting the intake of relevant precursors, reducing the accumulation of toxic metabolites.
That is, to compensate for deficiencies, eliminate excesses, contraindications. At the same time, to properly maintain the supply of calories, protein, fat, vitamins, minerals and other nutrients in the body of children.
(2) Dietary therapy:
Phenylketonuria - low phenylalanine diet and formula feeding;
Methylmalonic acidemia or propionic acidemia - protein-restricted diet or low methionine, valine, threonine and bright milk powder feeding; amino acid maple syrup urine disease - low leucine diet.
(3) Drug therapy: the application of drugs to promote the excretion of harmful accumulations, such as L-carnitine, sodium benzoate; supplementation of deficient vitamins, biotin, coenzymes and other drugs.
(4) Enzyme substitution therapy: It is used for the treatment of some lysosomal storage diseases. Genetically reconstituted active enzyme proteins are introduced into the body to supplement enzyme deficiencies in the body.
In Gaucher's disease, glycogen accumulation disease, Faber conjugation disease, mucopolysaccharide storage disease, etc. have significant effect.
(5.) Stem cell transplantation and organ transplantation: such as bone marrow transplantation and organ transplantation, are under investigation.
(6.) Gene therapy: Adenosine dehydrogenase deficiency is the first successful example in the current research.