Primary ovarian insufficiency in classic galactosemia: current understanding and future research opportunities.

ABSTRACT: Classic galactosemia is an inborn error of the metabolism with devastating consequences. Newborn screening has been successful in markedly reducing the acute neonatal symptoms from this disorder. The dramatic response to dietary treatment is one of the major success stories of newborn screening. However, as children with galactosemia achieve adulthood, they face long-term complications. A majority of women with classic galactosemia develop primary ovarian insufficiency and resulting morbidity. The underlying pathophysiology of this complication is not clear. This review focuses on the reproductive issues seen in girls and women with classic galactosemia. Literature on the effects of classic galactosemia on the female reproductive system was reviewed by an extensive Pubmed search (publicati

SUBMITTER: Thakur M 

PROVIDER: S-EPMC5758462 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature