Reference Values of 5-Aminolevulinate Dehydrase and Porphobilinogen Deaminase in the Spanish Population from Madrid

Abstract

5-Aminolevulinate dehydrase (ALA-D) and porphobilinogen deaminase (PBG-D) are cytosolic enzymes involved in heme biosynthesis. ALA-D activity is altered both genetically and by the action of various environmental factors, including exposure to lead. The activity of PBG-D is reduced in acute intermittent porphyria. The aim of this work is to establish the 95% reference range of the erythrocytic activity of ALA-D and PBG-D in a control population. ALA-D activity limits were 15.8 and 50.2 nmol of PBG/ml of red blood cells (RBCS) per minute. For the activity of ALA-D restored by addition of zinc and dithiothreitol (“restored ALA-D”), these limits were 44.1 and 86.5 units. It has been found that the “restored ALA-D”/ALA-D ratio is very useful for the evaluation of lead toxicity, and its 95% reference range was between 1.22 and 3.06. It has been demonstrated that the best method for measuring erythrocytic PBG-D is using PBG, but not ALA, as substrate; its 95% reference range was between 20.9 and 63.2 nmol of uroporphyrin/ml of RBCs per hour. Knowledge of these reference range values in a control population constitutes the basis for an accurate diagnosis of heavy metal intoxication and acute intermittent porphyria.