Treatment options for congenital metabolic disorders: Nutrition therapy, medication, enzyme replacement and gene therapy

More than 1450 congenital metabolic disorders are known. Of these, genetically determined enzyme defects often represent a major challenge for the diagnostics and treatment. The diagnostics are carried out on three levels: biochemical, enzymatic and genetic. The available treatment options are also applied on the same three levels, on the biochemical (substrate) level in the form of a modification of the substrate (mostly as nutrition therapy), at the enzyme level with replacement or stabilization of the defective enzyme and at the genetic level with gene replacement therapy currently in the form of organ or stem cell transplantation and in the future also, e.g., based on vectors. Approximately 20% of congenital metabolic disorders can be treated with some form of nutrition therapy. The aim of nutrition therapy is to prevent the metabolic disorder from becoming a metabolic disease. For enzyme replacement or gene therapy the aim is to begin as soon as possible to avoid irreversible damage.