Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.
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.
Nijland
Roel
R
Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Hartog
Francis E
FE
Wevers
Ron A
RA
Wanders
Ronald J A
RJ
Willemsen
Wim N P
WN
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
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose