title: [Diagnosis and differential diagnosis of acute hepatic prophyrias (author's transl)].
abstract: Diagnosis of porphyria is a clinical and biochemical procedure. Acute hepatic porphyrias are molecular regulation diseases which are characterized by a relative enzyme deficiency of the ferro-chelatase chain and an induction of hepatic delta-aminoacid synthase. There are indistinct clinical and pathobiochemical transitions between the three acute hepatic types of porphyria: acute intermittent porphyria, hereditary coproporphyria and porphyria variegata. They develop a similar acute clinical syndrome. The differential diagnosis is made possible by a differentiation of porphyrins and porphyrin precursers in the urine and the porphyrines in the stool and by the determination of uroporphyrinogen synthase activity in the erythrocytes.
mesh_terms: D000208:Acute Disease; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004912:Erythrocytes / Q000201:enzymology; D005243:Feces / Q000032:analysis; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000378:metabolism; D007855:Lead Poisoning / Q000175:diagnosis; D008107:Liver Diseases / Q000175:diagnosis*; D011164:Porphyrias / Q000175:diagnosis*; D011166:Porphyrins / Q000652:urine; D046351:Protoporphyria, Erythropoietic
chemical_list: D011166:Porphyrins; D011163:Hydroxymethylbilane Synthase
vernacular_title: Diagnose und Differentialdiagnose der akuten hepatischen Porphyrien.