Galactose epimerase deficiency: lessons from the GalNet registry.

ABSTRACT:

Background

Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different countries included through the Galactosemia Network to further expand the existing knowledge and review the current diagnostic strategy, treatment and follow-up of this not well characterized entity.

Methods

Observational study collecting medical data from December 2014 to April 2022 of 22 not previously reported patients from 14 centers in 9 countries. Patients were classified as generalized or non-generalized based on their genotype, enzyme activities in different tissues and/or clinical picture and professional judgment of the treating ph

SUBMITTER: Derks B 

PROVIDER: S-EPMC9438182 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature