Müllerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase.
The activity and electrophoretic pattern of galactose-1-phosphate uridyl transferase (transferase), a key enzyme in galactose metabolism, were analyzed in four patients with Müllerian aplasia (Rokitansky-Küster-Hauser syndrome) and their mothers. Mothers of two of the patients had genetic variations of their transferase enzymes with activities below the normal range. Affected daughters from these two mothers also had genetic variations of the transferase enzyme. In one of the patients whose Müllerian aplasia had been diagnosed 15 years previously, premature ovarian failure developed. These case reports suggest a possible association between errors of galactose metabolism, Müllerian aplasia, and premature menopause--an association that is supported by a rodent model in which female offspring of mothers fed a high-galactose diet were born with reduced oocyte numbers and delayed vaginal opening.
D000328:Adult; D005260:Female; D005690:Galactose / Q000009:adverse effects; D006801:Humans; D008431:Maternal-Fetal Exchange; D008594:Menopause, Premature; D009095:Mullerian Ducts / Q000473:pathology*; D010770:Phosphotransferases / Q000172:deficiency*; D011247:Pregnancy; D017855:Transferases (Other Substituted Phosphate Groups); D014621:Vagina / Q000002:abnormalities
D010770:Phosphotransferases; D017855:Transferases (Other Substituted Phosphate Groups); C037363:UDPgalactose - UDP-N-acetylglucosamine galactosephosphotransferase; D005690:Galactose