Original Study| Volume 22, ISSUE 4, P229-231, August 2009

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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.


      A case control study.


      The patients were selected from the outpatient clinic of the University Medical Center Nijmegen, and compared with the general population in The Netherlands.


      Patients (n=9) diagnosed with the syndrome of Müllerian aplasia and their mothers were included.


      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.


      All patients and their mothers had normal GALT activities20 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.


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

      Key Words

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