Table 1.
Clinical and laboratory findings in individuals harboring SLC51B mutations.
| Clinical Chemistry | Reference | Patient 1 | Patient 1 | Patient 1 | Patient 2 | Patient 2 |
|---|---|---|---|---|---|---|
| Age (years) | 10 | 11 | 12 | 3 | 3.5 | |
| AST (U/L) | 0–40 | 55 | 69 | 75 | 66 | 60 |
| ALT (U/L) | 0–40 | 110 | 128 | 129 | 89 | 62 |
| Bilirubin total (mg/dL) | 0–1.4 | 1 | 1.1 | 0.6 | 0.8 | |
| Bilirubin direct (mg/dL) | 0–0.4 | 0.5 | 0.5 | 0.3 | 0.4 | |
| GGT (U/L) | 9–24 | 205 | 226 | 200 | 195 | |
| ALP (U/L) | 100–350 | 305 | 310 | 405 | 285 | 401 |
| Cholesterol (mg/dL) | 129–199 | 142 | 151 | 137 | 141 | |
| Triglyceride (mg/dL) | 80–150 | 66 | 72 | 93 | 88 | |
| Albumin (g/dL) | 3.5–5.0 | 4.4 | 4.9 | 4.7 | 4.1 | 4.4 |
| PT (sec) | 9.4–12.5 | 12 | 11 | 14 | 13 | 14 |
| INR | 0.9–1.1 | 1.04 | 1.02 | 1.15 | 1.11 | 1.12 |
| Ceruloplasmin (mg/dL) | 230–291 | 311 | 280 | |||
| α1-antitrypsin (mg/dL) | 100–300 | 155 | 176 | |||
| Vitamin A (mg/L) | 0.5–1 | 0.28 | 0.41* | Not detected | 0.2* | |
| Vitamin D (25-OH) (ng/ml) | > 30 | 9 | 13* | 5 | 11* | |
| Vitamin E (μmol/L) | 1.0–5 | 0.27 | 0.3* | 0.08 | 0.2* | |
| Dry liver copper (μg/g) | 10.0–50 | 184 | ||||
| Urine copper (24 h) | 15–50 | 35 | ||||
| Plasma Bile acids | ||||||
| Cholic acid (μM) | 0.1–4.7 | 0.3 | 0.3 | |||
| Chenodeoxycholic acid (μM) | 0.7–10 | 0.6 | 0.6 |
*
Patients receiving daily fat soluble vitamin supplementation.
ALP, alkaline phosphatase; ALT, alanine aminotransferase; AST, aspartate aminotransferase; GGT, gamma-glutamyl transferase; INR, international normalized ratio; PT, prothrombin time.