Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

ABSTRACT:

Background

Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT. To investigate the phenotypes, genotypes and long-term outcomes of galactosemia, we performed a retrospective cohort study in our center.

Methods

All individuals with galactosemia type I were included. We divided individuals into two groups to compare the outcomes of those treated symptomatically (SymX) and asymptomatically (AsymX). We reviewed electronic patient charts for clinical features, biochemical investigations, molecular genetic investigations, treatments, and outcomes.

Results

There were 25 individuals including classic (n = 17), clinical variant (n = 4), and biochemical var

SUBMITTER: Almenabawy N 

PROVIDER: S-EPMC10926219 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature