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Article

Detection of common mutations in the GALT gene through ARMS.

Gene - 10 Nov 2012

Mahmood Umair, Imran Muhammad, Naik Salma Iqbal, Cheema Huma Arshad, Saeed Anjum, Arshad Muhammad, Mahmood Saqib

Abstract excerpt

Type I galactosemia is an inborn error resulting from mutations on both alleles of the GALT gene, which leads to the absence or deficiency of galactose-1-phosphate uridyltranseferase (GALT), the second of three enzymes catalyzing the conversion of galactose into glucose. On the basis of residual GALT activity, Type I galactosemia is classified into severe "Classical" and mild "Duarte" phenotypes. Classical...

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Identifiers

PMID: 22963887
DOI: 10.1016/j.gene.2012.08.010

Genes

GALT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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