Hereditary prophobilinogen synthase deficiency in human associated with acute hepatic porphyria.
Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity approximately 2% of the physiological level) has been characterized in erythrocytes after DEAE cellulose chromatography, ultrafiltration and polyacrylamide gel electrophoresis: Residual specific activity of 2.5%, increase of Km, but identical fractionation, concentration and electrophoretic mobility of the enzyme protein compared to controls. These results provide evidence for a structural mutation of the gene specifying the enzyme PBG-S connected with a homozygous state of this new enzymatic type of hereditary acute porphyria.
D000328:Adult; D002848:Chromatography, DEAE-Cellulose; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D000623:Porphobilinogen Synthase / Q000172:deficiency* / Q000235:genetics; D011164:Porphyrias / Q000201:enzymology / Q000235:genetics*; D014462:Ultrafiltration
D000623:Porphobilinogen Synthase