Sample | Metabolite (unit) | Patient 1 (at the age of 10 d) | Patient 2 (at the age of 6 ½ y) | Reference value |
---|---|---|---|---|
Blood | Soluble protoporphyrin in erythrocytes (nmol/l) | 1583 | 1256 | 9–89 |
Total protoporphyrin in erythrocytes (nmol/l) | 4176 | 4374 | < 500 | |
Urine | Coproporphyrin/creatinine (µg/g) | Not quantifiable | 3 277 | < 120 |
Uroporphyrin/creatinine (µg/g) | Not quantifiable | 100 | < 33 | |
Porphobilinogen/creatinine (µmol/g) | 48 | 15 | < 8 | |
5-aminolevulinacid (5-ALA)/creatinine (µmol/g) | 92 | 71.7 | < 25 | |
Total porphyrin/creatinine (µg/g) | 34 128 | 3 477 | < 174 | |
Faeces | Pentacarboxyporphyrin (µg/g) | 104.2 | Not obtained | < 3 |
Coproporphyrin (µg/g]) | 65.9 | Not obtained | < 24 | |
Total porphyrin (µg/g) | 334 | Not obtained | < 85 |