[Possibilities and limits of the treatment of genetic metabolic defects]. 1981

H Theile

Genetic metabolic errors are up to now mainly treated at the level of the non-metabolized substrate (diet, advanced elimination, blocking of the syntheses) or of the deficient metabolic product (e.g. substitution of hormones). In some defects at the level of the enzymatic protein an activation by administration of cofactors (vitamin-dependent defects), an induction of the syntheses of enzymes with residual activity, and the substitution by transplantation of different organs is partly possible. Studies about the direct substitution of highly purified enzymes are suggested to be successful in the near future. By this treatment the metabolic error may be compensated and clinical signs are prevented. The disease, however, is not curable. At present it is not possible to predict, whether or not it will be possible some day to cure metabolic errors in man by means of genetic engineering.

UI MeSH Term Description Entries
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D005818 Genetic Engineering Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. Genetic Intervention,Engineering, Genetic,Intervention, Genetic,Genetic Interventions,Interventions, Genetic
D005826 Genetics, Medical A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents. Medical Genetics
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013256 Steroids A group of polycyclic compounds closely related biochemically to TERPENES. They include cholesterol, numerous hormones, precursors of certain vitamins, bile acids, alcohols (STEROLS), and certain natural drugs and poisons. Steroids have a common nucleus, a fused, reduced 17-carbon atom ring system, cyclopentanoperhydrophenanthrene. Most steroids also have two methyl groups and an aliphatic side-chain attached to the nucleus. (From Hawley's Condensed Chemical Dictionary, 11th ed) Steroid,Catatoxic Steroids,Steroids, Catatoxic
D014180 Transplantation Transference of a tissue or organ from either an alive or deceased donor, within an individual, between individuals of the same species, or between individuals of different species. Transplantations
D014815 Vitamins Organic substances that are required in small amounts for maintenance and growth, but which cannot be manufactured by the human body. Vitamin

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