Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments

Abstract

The objectives of the study were to assess folate deficiency in patients withclassic galactosemia, and to determine whether folic acid supplementationhas an effect on galactose-1-phosphate uridyltransferase enzyme activity.Sixty-one newborn infants diagnosed with classic galactosemia between 2010and 2017 were retrospectively evaluated. Within this group, 48 patients withQ188R homozygous mutation alone were enrolled into the study. Serum folateconcentration was studied using chemiluminescence; and in folate deficientpatients, galactose-1-phosphate uridyltransferase measurements before andafter folic acid supplementation (100 mg/day folic acid for 30 days) wereperformed using an enzymatic calorimetric measurement technique based onkinetics. The serum folate level was low (