Pathophysiology and management of classic galactosemic primary ovarian insufficiency.

Patients with the condition of classic galactosemia need to maintain a strict lifelong diet that excludes the sugar galactose. This is due to having mutations in enzymes that process galactose, resulting in the buildup of toxic metabolic by-products of the sugar. Young women with classic galactosemia often lose the function of their ovaries very early in life (termed 'primary ovarian insufficiency'), despite adherence to a galactose-restricted diet. This means that in addition to the consequences of the disease, these women also face infertility and the potential need for hormone replacement therapy. This article summarizes current strategies for managing the care of galactosemic girls and women and also what is known of how the condition leads to early primary ovarian insufficiency.