Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

ABSTRACT: Classic galactosemia is a potentially lethal disorder that results from profound deficiency of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Although early diagnosis and rigorous dietary restriction of galactose prevent or resolve the potentially lethal acute symptoms, patients are at markedly increased risk of long-term complications including significant cognitive, speech, and behavioral difficulties, among other problems. The mechanisms that underlie these long-term complications remain unclear, as do the factors that modify their severity. Here we explored the scholastic and behavioral outcomes experienced by a cohort of 54 school age children with classic galactosemia. Data collected included survey responses from pa

SUBMITTER: Ryan EL 

PROVIDER: S-EPMC3657299 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature