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Article

A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2017

De Lucca M, Barba C, Casique L

Abstract excerpt

Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined. GALT gene presents high allelic heterogeneity and around 336 variations have been identified....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28450132
DOI: 10.1016/j.cca.2017.04.021

Genes

GALT

Provenance

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