Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria

Two different PBGD activity assays were validated. The best cut-off for coproporphyrin was derived as 46.4 nmol/h/mL RBC with corresponding sensitivity of 100% and specificity of 100% and the best cut-off for uroporphyrin was derived as 43.7 nkat/L RBC with corresponding sensitivity of 100% and specificity of 97.4%.