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Article

Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.

Biochimica et biophysica acta - 1 Aug 2013

McCorvie Thomas J, Gleason Tyler J, Fridovich-Keil Judith L, Timson David J

Abstract excerpt

Type I galactosemia is a genetic disorder that is caused by the impairment of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12). Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known how they cause their effects. The majority of these mutations are missense, with predicted substitutions scattered throughout the...

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Identifiers

PMID: 23583749
DOI: 10.1016/j.bbadis.2013.04.004
PMCID: PMC3679265

Genes

GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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