Laboratory data
| Porphyrins and precursors . | Erythrocytes . | Urine . | Feces . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject . | Age . | Copro I + III (μg/dL RBC) . | Proto IX (μg/dL RBC) . | ALA (mg/g cr) . | PBG (mg/g cr) . | URO I + III (μg/g cr) . | Copro III (μg/g cr) . | Penta III (μg/g dry) . | Copro III (μg/g dry) . | Hardero (μg/g dry) . | Proto IX (μg/g dry) . |
| Father | 25 y | — | — | 0.51 | 1.5 | 75.1 | 157.4 | 129.6 | 424.8 | 8.32 | 23.7 |
| Mother | 25 y | — | — | 0.26 | 0.23 | 24.3 | 125.2 | 4.64 | 14.9 | 17.8 | 32.6 |
| Patient | 0 (1 mo) | 77.2 | 287.6 | 2.16 | 3.92 | 927.0 | 34 875.7 | 42.4 | 34.0 | 1.68 | 0 |
| Patient | 0 (3 mo) | — | — | — | — | 751.0 | 11 159.3 | 66.0 | 288.4 (63%) | 45.4 (10%) | 0.6 |
| Patient | 0 (5 mo) | — | — | — | — | — | — | 412.0 | 1180.8 (63.7%) | 142.4 (7.7%) | 0.68 |
| Healthy controls (SD) | 1.9 (0.5) | 17.8 (17.1) | 1.17 (0.05) | < 0.8 | 11.7 (7.3) | 39.9 (26.8) | 0.0-1.6 | 1.8 (0.98) | 0-2 | 6.4 (4.24) | |
| Porphyrins and precursors . | Erythrocytes . | Urine . | Feces . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject . | Age . | Copro I + III (μg/dL RBC) . | Proto IX (μg/dL RBC) . | ALA (mg/g cr) . | PBG (mg/g cr) . | URO I + III (μg/g cr) . | Copro III (μg/g cr) . | Penta III (μg/g dry) . | Copro III (μg/g dry) . | Hardero (μg/g dry) . | Proto IX (μg/g dry) . |
| Father | 25 y | — | — | 0.51 | 1.5 | 75.1 | 157.4 | 129.6 | 424.8 | 8.32 | 23.7 |
| Mother | 25 y | — | — | 0.26 | 0.23 | 24.3 | 125.2 | 4.64 | 14.9 | 17.8 | 32.6 |
| Patient | 0 (1 mo) | 77.2 | 287.6 | 2.16 | 3.92 | 927.0 | 34 875.7 | 42.4 | 34.0 | 1.68 | 0 |
| Patient | 0 (3 mo) | — | — | — | — | 751.0 | 11 159.3 | 66.0 | 288.4 (63%) | 45.4 (10%) | 0.6 |
| Patient | 0 (5 mo) | — | — | — | — | — | — | 412.0 | 1180.8 (63.7%) | 142.4 (7.7%) | 0.68 |
| Healthy controls (SD) | 1.9 (0.5) | 17.8 (17.1) | 1.17 (0.05) | < 0.8 | 11.7 (7.3) | 39.9 (26.8) | 0.0-1.6 | 1.8 (0.98) | 0-2 | 6.4 (4.24) | |
Porphyrin concentration of patient and his father showed tremendous excretion of coproporphyrin III in feces and urine.
ALA indicates δ-aminolevulinic acid; PBG, porphobilinogen; URO, uroporphyrin; Copro III, coproporphyrin III; Penta, pentacarboxyl porphyrin III; Hardero, harderoporphyrin; Proto IX, protoporphyrin IX.