Hereditary hepatic porphyria with delta aminolevulinate dehydrase deficiency: immunologic characterization of the non-catalytic enzyme.
Immunoreactive delta-aminolevulinate dehydrase (ALA-D) was measured in lysates from two porphyric patients with ALA-D deficiency (enzyme activities were below 2% of the normal level). By using two different immunologic methods, we found a cross-reactive immunologic material (CRIM+) which corresponded to 20% and 33% of the control level. Therefore the molecular basis that accounts for the deficiency of ALA-D in these patients is a structurally modified enzyme. The methods used to determine the molecular weight (by Western blotting) and the isoelectric point (by chromatofocusing) of the mutants did not show any difference by comparison with the normal enzyme.
D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007122:Immunoelectrophoresis; D007124:Immunoenzyme Techniques; D007525:Isoelectric Focusing; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008970:Molecular Weight; D009154:Mutation; D000623:Porphobilinogen Synthase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics
D000623:Porphobilinogen Synthase