Galactose metabolism in two children with the same GALT defect but two genetically different livers
Patient | Weight(kg) | RBC gal-1-P (µg/g Hgb) | Urine galactitol (µM/mM creatinine) |
A | 9.73 | 74 (80–125) | 254.6 (194–620) |
B | 18.9 | 94 (80–125) | 126.7 (194–620) |
The reference ranges indicated are for individuals with classical galactosaemia on a lactose-free diet. Normal red cell gal-1-P levels range from 5 to 49 μg/gm Hbg and normal urine galactitol is <45.4 µM/mM creatinine.4
RBC, red blood cell.