EFFECTS OF GALACTOSEMIA IN-UTERO

There is direct evidence that in galactosemia, due to galactose-1-phos phate uridyltransferase deficiency, galactose, galactose-1-phosphate a nd galactitol accumulate in the fetus by week 20 of gestation. The met abolic abnormality may develop earlier than this, however, since the k ey enzymes in galactose metabolism have been shown to be present in no rmal fetal liver from the 10th week of gestation. There has been a sin gle report of increased galactitol in amniotic fluid obtained at 10 we eks gestation, the outcome being a baby affected with galactosemia. Ca taract formation in the fetus is rare and the only direct evidence tha t galactosemia may have harmful effects in utero. However, it has been concluded that the liver pathology seen in some patients who died in the neonatal period originated prenatally, and some studies have found that galactosemia is associated with reduced birth weight. Reports of two patients with histologically normal ovaries very soon after birth have been cited as evidence against gonadal dysfunction arising durin g fetal life, but it should be noted that this is not a constant featu re in female galactosemics. Other observations, particularly those mad e from animal models, would suggest that ovarian dysfunction is most l ikely to have been caused in utero.