TABLE 3.
Serum measurements in patients with mental retardation, deafness, and ankylosis and in ank mice
| Serum parameter | Control mice | Heterozygous ank mice | Homozygous ank mice | ANKH L244S homozygous | ANKH L244S heterozygous | Human reference values |
|---|---|---|---|---|---|---|
| Ca (mmol/liter) | 2.43 ± 0.29 (n = 35) | 2.58 ± 0.26 (n = 26) | 2.56 ± 0.24 (n = 20) | 2.3 ± 0.15 (n = 10) | 2.3 ± 0.11 (n = 6) | 2.20–2.65 |
| P (mmol/liter) | 4.44 ± 1.24 (n = 35) | 4.49 ± 1.16 (n = 26) | 4.70 ± 1.10 (n = 20) | 0.8 ± 0.09 (n = 14) | 1.03 ± 0.15 (n = 7) | 0.85–1.4 |
| ALP (U/liter), 8 wk | 42.9 ± 8 (n = 14; P ≤ 0.001) | ND | 59.7 ± 7.4 (n = 14; P ≤ 0.001) | 80 ± 17 (n = 4 adults) | 61 ± 13 (n = 4 adults) | 40–120 |
| ALP (U/liter), 4 wk | ND | ND | ND | 166 ± 30 (n = 6 children) | ND | 40–120 |
| PTH (pg/ml) | ND | ND | ND | 6.1 ± 1.7 (n = 10) | 5.4 ± 1.6 (n = 4) | 1–6.5 |
| 25OH-VitD (nmol/liter) | 155.5 ± 14.5 (4 pools) | 155.5 ± 14.5 (4 pools) | 138.3 ± 6.5 (3 pools) | 31.5 ± 6.1 (n = 8) | 45 ± 18.2 (n = 5) | 35–100 |
| 1,25-OHD3 (pmol/liter), 8 wk | 244 (pool) | 244 (pool) | 260 (pool) | 177 ± 21 (n = 4 children) | ND | 50–150 |
| 1,25-OHD3 (pmol/liter), 12 wk | 109 (pool) | 123 (pool) | 243 (pool) | 162 ± 6.2 (n = 4 adults) | 136 ± 26 (n = 5) | 50–150 |
Values are given as mean ± sd. Bold values indicate statistically significant differences. Statistical significance for mouse experiments was calculated with t test. 1,25-OHD3, 1,25-dihydroxycholecalciferol; 25OH-VitD, 25-hydroxycholecalciferol; n, number of measurements.