Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

ABSTRACT:

Background

Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect.

Methods

This study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactose

SUBMITTER: Garcia DF 

PROVIDER: S-EPMC4866286 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature