Table 2.
Results from laboratory evaluation of bone markers in siblings with biallelic, pathogenic B4GALT7 variants.
| Male Sibling | Female Sibling | Reference Range | |
|---|---|---|---|
| Serum | |||
| Calcium (mg/dl) | 10.1 | 9.8 | M: 9.4–10.325 F: 9.4–10.825 |
| Calcium, ionized (mg/dL) | 5.08 | 5.03 | M: 4.6–5.325 F: 4.9–5.325 |
| Phosphorus (mg/dL) | 5.2 | 5.1 | M: 3.6–5.825 F: 4.5–6.525 |
| %CK-BB (Brain-type creatine kinase) (IU/L) | 2 | 2 | 5–2526 |
| Alkaline phosphatase (U/L) | 289 | 390 | M: 60–45025 F: 100–35025 |
| Bone alkaline phoshatase (mcg/L) | 95 | 142 | M: 51–16427 F: 147–35927 |
| Parathyroid hormone (PTH) (pg/mL) | 26 | 32 | 9–5228 |
| 25-OH vitamin D (ng/mL) | 47 | 41 | 21–10029 |
| Creatine kinase (U/L) | 160 | 276 | M: 55–21530 F: 75–23030 |
| Urine (spot) | |||
| Calcium/creatinine ratio | 0.12 | 0.23 | M: 0.04–0.725 F: 0.05–1.125 |
| Phosphorus/creatinine ratio | 0.24 | 0.33 | M: 0.8–3.225 F: 1.2–1825 |
| Bone Turnover Markers | |||
| Serum osteocalcin (ng/ml) | 122 | 136 | M: 56–8031 F: 66–8831 |
| Urine NTX-telopeptide (nmol/mmol creatinine) | 598 | 628 | M: 386–68132 F: 646–92332 |