Table 2.
Clinical Information on the Galactokinase-Deficient Patients Detected by the Newborn Screening
| Patient | Year ofBirth | Blood GalactoseScreening Value(mg/dl) | Initiation ofTreatment | Jaundice,Vomiting,Infection | aSerumGOT(IU/L) | aSerumGPT(IU/L) | bGalactokinase (μmol/h/ml RBC) | cGal-1-PUridyltransferase(μmol/h/g Hb) | Cataracts |
| D.P.H | 1981 | 110 | 45 d | No | 20 | 8 | .06 | 26.3 | No |
| S.M.I | 1983 | 115 | 30 d | No | 16 | 6 | .02 | 35.6 | No |
| S.H.G | 1984 | 90 | 36 d | No | 11 | 2 | .15 | 43.3 | No |
| T.V.I. | 1984 | 125 | 3.5 mo | No | 15 | 9 | 0 | 33.4 | Yes |
| P.P.V. | 1985 | 99 | 20 d | No | 12 | 12 | .11 | 36.9 | No |
| I.L.S. | 1986 | 143 | 34 d | No | 10 | 8 | 0 | 29.7 | No |
a
Normal range for SGOT and SGPT<18 IU/L.
b
Normal range for galactokinase: 0.69–2.57 (2 wk–9 mo); 0.42–0.99 (>9 mo).
c
Normal range for galactose-1-phosphate uridyltransferase: 18.9–37.9.