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Article

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

Disease models & mechanisms - 1 Nov 2016

Daenzer Jennifer M I, Jumbo-Lucioni Patricia P, Hopson Marquise L, Garza Kerry R, Ryan Emily L, Fridovich-Keil Judith L

Abstract excerpt

Classic galactosemia (CG) is a potentially lethal inborn error of metabolism that results from the profound loss of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Neonatal detection and dietary restriction of galactose minimizes or resolves the acute sequelae of CG, but fails to prevent the long-term complications experienced by a majority of...

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Source

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Identifiers

PMID: 27562100
DOI: 10.1242/dmm.022988
PMCID: PMC5117221

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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