Gastrointestinal Health in Classic Galactosemia.

ABSTRACT: Classic galactosemia (CG) is an autosomal recessive disorder of galactose metabolism that affects approximately 1/50,000 live births in the USA. Following exposure to milk, which contains large quantities of galactose, affected infants may become seriously ill. Early identification by newborn screening with immediate dietary galactose restriction minimizes or prevents the potentially lethal acute symptoms of CG. However, more than half of individuals with CG still experience long-term complications including cognitive disability, behavioral problems, and speech impairment. Anecdotal reports have also suggested frequent gastrointestinal (GI) problems, but this outcome has not been systematically addressed. In this study we explored the prevalence of GI symptoms among 183 children and adults

SUBMITTER: Shaw KA 

PROVIDER: S-EPMC5413454 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature