Patient | 1 | 2 | 3 | 4 | 5 | 6 | Normal values |
Blood pH | 7.31 | 7.25 | 7.34 | 7.31 | 7.25 | 7.36 | 7.35–7.45 |
Bicarbonate (mmol/l) | 14.3 | 16.8 | 17.2 | 16 | 16 | 21.5 | 22–29 |
Anion gap (mmol/l) | 16 | 15 | 16 | 17 | 15 | NK | 15–20 |
Urine pH | 6.4 | 6.4 | 6.5 | 6.0 | 6.0 | 5.6 | |
TRP (%) | NK | NK | 42 | 68 | 59.8 | 74.1 | 80–100 |
Aminoaciduria | + | + | + | NK | + | − | |
Glycosuria | + | + | + | NK | − | − | |
Creatinine (μmol/l) | 76 | 62 | 71 | 96 | 54 | 69 | 33–85 |
Bilirubin (μmol/l) | |||||||
Total | 287 | 951-150 | 252 | 234 | 118 | 162 | |
Conjugated | 183 | 31 | 204 | 88 | 95 | 154 | |
Alkaline phosphatase (U/l)1-151 | 832 | 239 | 1042 | 1475 | 2258 | 1652 | 60–350 |
AST (U/l) | NK | 27 | 22 | 328 | 68 | 42 | 1–45 |
ALT (U/l) | 24 | NK | 25 | 273 | 44 | 22 | 3–50 |
γGT (U/l) | NK | 24 | 33 | NK | 58 | 32 | 1–65 |
↵1-150 No measurements were made beyond age 3 days.
↵1-151 Serum phosphate concentrations were normal at the time of the raised alkaline phosphatase values in all patients.
TRP, tubular reabsorption of phosphate; NK, not known; +, present; −, absent; AST, aspartate transaminase; ALT, alanine transaminase; γGT, γ glutamyltransferase.