Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.

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> or =20 micromol/h/g Hb. The mean value did not differ from the mean of the normal Dutch population, which was 31.6 (SD=5.0) mumol/h/g Hb.

Conclusion: GALT deficiency is not an explanation for Müllerian aplasia, at least in the Dutch population.