Table 3.
Protoporphyrinogen oxidase activity
| Family | Patient | Total activity nmoles PROTO/mg protein/h | PPOX activity (%) | Mutation/Defect |
| II | P | 16.28 | 43 | c.807 G>A/r.spl? |
| III | P | 13.15 | 39.55 | c.808-1G>C/r.spl? |
| C | 15.58 | 46.85 | c.808-1G>C/r.spl? | |
| C | 16.85 | 50.67 | c.808-1G>C/r.spl? | |
| IV | P | 14.35 | 42.56 | c.338+3insT/r.spl? |
| V | P | 18.48 | 55.58 | c.101A>T/p.E34V |
| VII | P | 15.84 | 47.64 | c. 995 G>C/pG332A |
| F | 16.89 | 50.79 | c. 995 G>C/pG332A | |
| C | 19.21 | 57.77 | c. 995 G>C/pG332A | |
| VIII | P | 16.95 | 50.98 | c.670T>G/p.W224R |
| D | 18.12 | 54.19 | c.670T>G/p.W224R |
PPOX activity was determined as described in Materials and Methods. The values are the mean value of two determinations run in duplicates.
The patients are the probands of the families indicated in Table 1. PPOX activity values of the clinical and biochemical asymptomatic relatives from these families are shown. Normal value: 33.25 ± 6.32 nmoles PROTO/mg protein/h.
P: proband; F: father; D: daughter; C: cousin