Society guideline links: Galactosemia

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Inborn errors of metabolism".)

International

●The Galactosemia Network (GalNet): International clinical guideline for the management of classical galactosemia – Diagnosis, treatment, and follow-up (2017)

United States

●American College of Medical Genetics and Genomics (ACMG): Newborn screening ACT sheet – [Absent/reduced galactose-1-phosphate uridyltransferase (GALT)] Classic galactosemia

●ACMG: Newborn screening ACT sheet – [Increased total galactose with normal GALT] Primary or secondary hypergalactosemia

●ACMG: A technical standard and guideline on the laboratory diagnosis of galactosemia (2018)

United Kingdom

●UK Galactosaemia Steering Group: Recommendations for the management of galactosaemia (1999)