Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.

ABSTRACT: Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term complications including cognitive disability, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction. Further, there remains uncertainty surrounding what constitutes a 'best practice' for treating this disorder. To explore the extent and implications of this uncertainty, we conducted a small but global survey of healthcare providers who follow patients with classic galactosemia, seeking to compare

SUBMITTER: Jumbo-Lucioni PP 

PROVIDER: S-EPMC3774053 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature