Galactose-1-Phosphate Uridyl Transferase Deficiency Is Not Associated with Müllerian Aplasia in Dutch Patients

Abstract Study Objective To study whether a deficiency in galactose-1-phosphate uridyl transferase (GALT) activity of mothers was an explanation for the occurrence of Müllerian aplasia of their daughters. Design A case control study. Setting The patients were selected from the outpatient clinic of the University Medical Center Nijmegen, and compared with the general population in The Netherlands. Participants Patients (n = 9) diagnosed with the syndrome of Müllerian aplasia and their mothers were included. Interventions A questionnaire for medical and family history was taken, and a venous blood sample and urine were collected. Main Outcome Measures GALT activity (in blood), galactose and galactilol (in urine) were measured. Measured values were analyzed by Student's paired t -test. Results All patients and their mothers had normal GALT activities ≥ 20 μmol/h/g Hb. The mean value did not differ from the mean of the normal Dutch population, which was 31.6 (SD = 5.0) μmol/h/g Hb. Conclusion GALT deficiency is not an explanation for Müllerian aplasia, at least in the Dutch population.