Summary
Deficient porphobilinogen-synthase (PBG-S) of a previously reported patient with PBG-S defect porphyria (red cell PBG-S activity ∼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.
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Brandt, A., Doss, M. Hereditary porphobilinogen synthase deficiency in human associated with acute hepatic porphyria. Hum Genet 58, 194–197 (1981). https://doi.org/10.1007/BF00278710
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DOI: https://doi.org/10.1007/BF00278710