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Article

Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.

Journal of inherited metabolic disease - 1 Jan 2017

Chen Wyman, Caston Rose, Balakrishnan Bijina, Siddiqi Anwer, Parmar Kamalpreet, Tang Manshu, Feng Merry, Lai Kent

Abstract excerpt

Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed reduced fertility and growth restriction. These phenotypes resemble those seen in human patients....

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Source

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Identifiers

PMID: 27783170
DOI: 10.1007/s10545-016-9993-2
PMCID: PMC5203948

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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