Intermittent acute porphyria--demonstration of a genetic defect in porphobilinogen metabolism.
D000624:5-Aminolevulinate Synthetase / Q000378:metabolism; D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D007982:Levulinic Acids / Q000378:metabolism; D008190:Lyases / Q000097:blood; D008297:Male; D010375:Pedigree; D011162:Porphobilinogen / Q000096:biosynthesis; D011164:Porphyrias / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism; D011166:Porphyrins / Q000032:analysis / Q000096:biosynthesis / Q000652:urine; D011422:Propionates; D011758:Pyrroles / Q000378:metabolism*
D007982:Levulinic Acids; D011166:Porphyrins; D011422:Propionates; D011758:Pyrroles; D011162:Porphobilinogen; D000624:5-Aminolevulinate Synthetase; D008190:Lyases