Initial porphyria investigations
| Patient | ALA | Urine PBG | Porphyrins | Red cell HMBS | Plasma fluorescense | Faecal porphyrins | Molecular defect |
|---|---|---|---|---|---|---|---|
| ALA, δ-aminolaevulinic acid; HMBS, hydroxymethylbilane synthase; PBG, porphobilinogen; PPOX, protoporphyrinogen oxidase. | |||||||
| 1 | 70.9 | 65.3 | 6500 | 18 | Negative | 22 | HMBS: exon 12; C.731 T>G, L 244R |
| 2 | 17 | 10.6 | 299 | 32 | Positive | 267 | PPOX: exon 9; C.884 T>C, L 295P |
| 3 | 25.8 | 28.3 | 420 | 37 | Positive | 120 | PPOX: intron 5; IVS5-(25-16) del CTT AG TCCT |
| Reference Range | <3.8 (μmol/mmol creatinine) | <1.5 (μmol/mmol creatinine) | <35 (nmol/mmol creatinine) | 20–42 (nmol/h/ml/RBC) | – | <46 (nmol/g dry weight) | |