EC Number   |
Application |
Reference |
|---|
    2.5.1.61 | diagnostics |
melting properties of mutant enzymes are used to diagnose acute intermittent porphyria in symptomatic and asymptomatic carriers with the high-resolution melting method |
707112 |
| 2.5.1.61 | diagnostics |
molecular analysis of the hydroxymethylbilane synthase confirms risk for acute intermittent porphyria |
708471 |
| 2.5.1.61 | medicine |
a HPLC method for simultaneous determination of porphobilinogen deaminase and uroporphobilinogen III synthase activity. The estimation of porphobilinogen deaminase activity is widely used for the diagnosis of acute intermittent porphyria where the abnormality of the enzyme is the primary genetic defect |
5882 |
| 2.5.1.61 | medicine |
acute intermittent porphyria is caused by partial deficiency of hydroxymethylbilane synthase affecting heme biosynthesis |
684446 |
| 2.5.1.61 | medicine |
cats with naturally occurring mutant enzymes can be used as animal model for acute intermittent porphyria |
703965 |
| 2.5.1.61 | medicine |
enzyme over-expression in hepatocytes reduces precursor accumulation, liver-directed gene therapy might offer an alternative to liver transplantation |
709334 |
| 2.5.1.61 | medicine |
network analysis of residues involved in acute intermittent porphyria. Residues R150, R26 and Q217 are critical for the catalytic activity as they facilitate the interaction between the structural clusters and the active site |
759637 |
| 2.5.1.61 | pharmacology |
safety, pharmacokinetics and pharmacodynamics of recombinant human porphobilinogen deaminase P 9808, administered to healthy subjects and asymptomatic porphobilinogen deaminase-deficient subjects with high concentrations of porphobilinogen, the substrate of porphobilinogen deaminase for investigation and establishing of an alternative therapy of acute intermittent porphyria, AIP, overview |
673142 |
