Clinical, hematologic, and molecular features of the patients with P5N-I deficiency
. | Family I . | . | Family II . | . | Family III . | . | Family IV . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | I-1 . | I-2 . | II-1 . | II-2 . | III-1 . | III-2 . | IV-1 . | IV-2 . | ||||
| Mutation | 743-744insGG | 743-744insGG | 543T>G (Tyr181Stop) | 384-385insA | ||||||||
| Sex, M/F | M | M | M | M | M | M | M | F | ||||
| Age at present, y (exitus) | 26 | 19 | 38 | 30 | 37 | (13) | 47 | (12) | ||||
| Purine-pyrimidine ratio* | 0.98 | 1.05 | 1.0 | 1.06 | 0.9 | ND | 1.16 | 1.10 | ||||
| P5N activity† | 1.1 | 1.78 | 0.9 | 0.8 | 0.7 | 0.8 | 0.4 | 0.6 | ||||
| Hb level, g/L‡ | 95 | 90 | 95 | 93 | 106 | 90 | 107 | 60 | ||||
| MCV, fl‡ | 107 | 122 | 95 | 99 | 111 | 95 | 114 | 95 | ||||
| Reticulocyte count, × 109/L‡ | 189 | 154 | 316 | 250 | 224 | 210 | 341 | 341 | ||||
| Bilirubin level, μM/L, total/direct | 27/9 | 82/7 | 174/7 | 145/9 | 202/7 | 152/9 | 70/7 | 207/7 | ||||
| Spleen, cm | 8 | 7 | 3 | 6 | 4 | 3 | 7 | 12 | ||||
| Other presenting features | None | None | None | None | Neonatal jaundice, mental retardation | Thalassemic face and bony changes | ||||||
. | Family I . | . | Family II . | . | Family III . | . | Family IV . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | I-1 . | I-2 . | II-1 . | II-2 . | III-1 . | III-2 . | IV-1 . | IV-2 . | ||||
| Mutation | 743-744insGG | 743-744insGG | 543T>G (Tyr181Stop) | 384-385insA | ||||||||
| Sex, M/F | M | M | M | M | M | M | M | F | ||||
| Age at present, y (exitus) | 26 | 19 | 38 | 30 | 37 | (13) | 47 | (12) | ||||
| Purine-pyrimidine ratio* | 0.98 | 1.05 | 1.0 | 1.06 | 0.9 | ND | 1.16 | 1.10 | ||||
| P5N activity† | 1.1 | 1.78 | 0.9 | 0.8 | 0.7 | 0.8 | 0.4 | 0.6 | ||||
| Hb level, g/L‡ | 95 | 90 | 95 | 93 | 106 | 90 | 107 | 60 | ||||
| MCV, fl‡ | 107 | 122 | 95 | 99 | 111 | 95 | 114 | 95 | ||||
| Reticulocyte count, × 109/L‡ | 189 | 154 | 316 | 250 | 224 | 210 | 341 | 341 | ||||
| Bilirubin level, μM/L, total/direct | 27/9 | 82/7 | 174/7 | 145/9 | 202/7 | 152/9 | 70/7 | 207/7 | ||||
| Spleen, cm | 8 | 7 | 3 | 6 | 4 | 3 | 7 | 12 | ||||
| Other presenting features | None | None | None | None | Neonatal jaundice, mental retardation | Thalassemic face and bony changes | ||||||
MCV indicates mean corpuscular volume; fl, femto liter; and ND, not determined.
Normal values of purine-pyrimidine ratio (OD260/OD280) are 1.9 or higher.
Normal laboratory values of P5N activity are 2 μM or higher of Pi released per gram of Hb per hour.
Means of at least 6 values obtained after splenectomy and after puberty.