Table 1. Baseline parameters for control and nitisinone-treated alkaptonuria patients.
| Control | Nitisinone-treated | P | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Normal Values | N | Mean | SD | (Range) | N | Mean | SD | (Range) | ||
| Male/Female | 15/5 | 12/8 | ||||||||
| Age | 20 | 51.3 | 6.5 | (40-63) | 20 | 52.2 | 7.9 | (38-68) | 0.72 | |
| ROM-worse hip (°)a | 90 | 20 | 46.4 | 16.1 | (19-90) | 20 | 39.0 | 12.7 | (18-72) | 0.13 |
| ROM-better hip (°) | 90 | 19 | 56.1 | 12.6 | (40-90) | 19 | 51.0 | 11.4 | (33-77) | 0.23 |
| 6MW (ft)b | 1621 (F) 1890 (M) |
20 | 1578 | 205 | (1255-1999) | 20 | 1336 | 369 | (642-1929) | 0.04 |
| Get up & Go (s)b | <10 freely mobile <20 mostly independent |
20 | 7.6 | 1.4 | (5.1-10.7) | 20 | 9.7 | 4.1 | (5.5-20.6) | 0.06 |
| Functional Reach (in)b | <6 predictive of falls >10 inches okay |
20 | 10.2 | 2.9 | (5-15) | 20 | 9.0 | 3.1 | (0.6-12.7) | 0.39 |
| Schober (cm)b | ≥15 | 20 | 11.4 | 1.04 | (10.2-13.5) | 20 | 10.9 | 0.73 | (10-13) | 0.08 |
| Abnormal Aortic Valvec | 17/20 | 14/20 | ||||||||
| Abnormal MRId | 8/20 | 7/18 | ||||||||
| Hgb (g/dl) | 11.1-15.0 (F) 12.7-16.7 (M) |
20 | 14.4 | 1.1 | (11.9-16.1) | 20 | 14.0 | 1.1 | (11.6-15.9) | 0.29 |
| WBC (k/μL) | 3.30-9.60 | 20 | 5.8 | 1.2 | (4.3-8.8) | 20 | 5.8 | 1.4 | (3.0-8.6) | 0.90 |
| ALT (U/L) | 6-41 | 20 | 26.8 | 10.1 | (13-52) | 20 | 24.3 | 13.0 | (10-70.5) | 0.23 |
| Plasma Tyr (μM) | 34-112 | 19 | 58.2 | 8.9 | (46.5-85.5) | 19 | 61.4 | 16.3 | (41-108) | 0.83 |
| Urine HGA (mg/d) | 20-30 | 20 | 5979 | 1840 | (2250-9294) | 20 | 5383 | 2128 | (835-9600) | 0.36 |
a
Primary outcome parameter
b
Secondary outcome parameter
c
Valvular changes including calcification, thickening of valve leaflets, sclerosis or stenosis
d
Nonspecific white matter changes; not performed on all individuals