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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, METHODS, METHODS, METHODS, METHODS, RESULTS. Meshes: Adult, Case-Control Studies, Female, Galactose, Humans, Middle Aged, Mullerian Ducts, Netherlands, Polymorphism, Single Nucleotide, Pregnancy, Syndrome, UTP-Hexose-1-Phosphate Uridylyltransferase, Young Adult.
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Is galactose-1-phosphate uridyl transferase deficiency associated with Müllerian aplasia in Dutch patients? Context: 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. 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 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.
assistant
GALT deficiency is not an explanation for Müllerian aplasia, at least in the Dutch population. Final Decision: no