2. Enzymes involved in metabolic pathologies

A number of anomalies leading to metabolic disorders are presented here on a non-exhaustive basis. Given the considerable number of enzymes involved in the various cellular metabolisms discussed, it is clear that not all pathologies linked to deficient or mutated enzymes in these metabolic pathways can be cited. Existing drug treatments linked to some of these pathologies will not be discussed in this article. For information on the pathophysiology of rare diseases, we consulted the Orphanet portal ( http://www.orpha.net ' consor ' cgi-bin). Readers requiring further information can refer to this site.