title: Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
abstract: 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.
  
  
  METHODS
  A case control study.
  
  
  METHODS
  The patients were selected from the outpatient clinic of the University Medical Center Nijmegen, and compared with the general population in The Netherlands.
  
  
  METHODS
  Patients (n=9) diagnosed with the syndrome of Müllerian aplasia and their mothers were included.
  
  
  METHODS
  A questionnaire for medical and family history was taken, and a venous blood sample and urine were collected.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  GALT deficiency is not an explanation for Müllerian aplasia, at least in the Dutch population.
authors: Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors: Roel
authors: R
authors: Nijland
authors: Francis E
authors: FE
authors: Hartog
authors: Ron A
authors: RA
authors: Wevers
authors: Ronald J A
authors: RJ
authors: Wanders
authors: Wim N P
authors: WN
authors: Willemsen
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005690:Galactose / Q000652:urine; D006801:Humans; D008875:Middle Aged; D009095:Mullerian Ducts / Q000002:abnormalities*; D009426:Netherlands; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D013577:Syndrome; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*; D055815:Young Adult
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose