title: [Vitamins in metabolic diseases].
abstract: Several vitamins have been demonstrated to interfere with the pathogenesis of some metabolic diseases, mainly by three different mechanisms: 1) vitamin malabsorption, 2) errors in vitamin metabolism, 3) vitamin dependent syndromes. The latter is due to a deficiency of the apoenzyme whose coenzyme is the vitamin itself. In this case pharmacological, instead of nutritional doses of the vitamin may be needed. The vitamins which interfere with inborn metabolic errors are reviewed; for each vitamin the corresponding diseases which may be treated are indicated. The vitamins are: 1) thiamine (leucinosis); b) nicotinic acid (hyperlipoproteinemia); c) biotin (beta-methyl-crotonyl-glycinuria, propionic aciduria); d) pyridoxine (infantile convulsions, familial pyridoxine responsive anemia, homocystinuria, cystathioninuria, xanthurenicaciduria); e) cobalamins (congenital intrinsic factor deficiency, cobalamin malabsorption, transcobalamin deficiency, methylmalonic aciduria) f) folic acid (congenital folic acid malabsorption, formimino-transferase deficiency, methylenetetrahydrofolic reductase deficiency, Lesch-Nyhan syndrome); g) vitamin D (phosphatic diabetes, Prader's type rickets, Albright's syndrome; essential hereditary hypophosphatemia, etc). It is noteworthy that the vitamin therapy of these diseases, not only corrects the metabolic errors, but can also promote the healing or the amelioration of the psycho-physical growth, of central nervous system alterations and of other lesions.
mesh_terms: D001710:Biotin / Q000627:therapeutic use; D004305:Dose-Response Relationship, Drug; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy*; D009525:Niacin; D009539:Nicotinic Acids / Q000627:therapeutic use; D011736:Pyridoxine / Q000627:therapeutic use; D013831:Thiamine / Q000627:therapeutic use; D014805:Vitamin B 12 / Q000627:therapeutic use; D014807:Vitamin D / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use*
chemical_list: D009539:Nicotinic Acids; D014815:Vitamins; D014807:Vitamin D; D009525:Niacin; D001710:Biotin; D005492:Folic Acid; D011736:Pyridoxine; D014805:Vitamin B 12; D013831:Thiamine
vernacular_title: Le vitamine nelle malattie del metabolismo.