Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.

To explore a possible relationship between neurofibromatosis and abnormalities of galactose metabolism, we examined the activity and characteristics of red cell galactokinase and galactose-1-phosphate uridyl transferase in 14 white women with type 1 neurofibromatosis and in 28 control women. Women with NF1 had a significantly lower activity of galactokinase and were more likely to have the 3-band pattern on electrophoresis of their transferase enzyme known as the Duarte variant. In addition, we found that women with NF1 were more likely to have reproductive histories suggestive of hypogonadism, including irregular menses, infertility, ovarian cysts, and early menopause. We conclude that abnormalities of galactose metabolism may be linked to abnormalities of both germ cell and neural crest development.