Table 2

Galactose metabolism in two children with the same GALT defect but two genetically different livers

PatientWeight(kg)RBC gal-1-P (µg/g Hgb)Urine galactitol (µM/mM creatinine)
A9.7374 (80–125)254.6 (194–620)
B18.994 (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.