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Table · dataset · 2026

<p>Raw data presented in S2 Fig panels A-F.</p>

Listed in figshare and Loughborough Research Repository — shown once because both records carry DOI 10.1371/journal.pgen.1012276.s015

<div><p>Classic galactosemia (CG) is a potentially lethal disease that results from profound deficiency of galactose-1-P uridylyltransferase (GALT).

Description

Prior reports document elevated galactose metabolites beginning <i>in utero</i> in CG, raising concern that long-term complications in CG might also trace their origins to the prenatal period. However, studies document that elevated galactose metabolites in the postnatal period do not predict later developmental complications, challenging the connection.

Here, we explored the relationship between elevated galactose metabolites <i>in utero</i> and fetal outcome using a GALT-null rat model of CG. To modify galactose metabolites <i>in utero</i>, we arranged rat crosses to produce GALT-null pups developing within either a GALT-null or heterozygous dam, and with or without heterozygous siblings. We reasoned that GALT activity present <i>outside</i> the fetus, but within the maternal-fetal compartment, might limit metabolic abnormalities in a developing GALT-null fetus -- and it did.

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Specifically, while galactose metabolites in GALT-null fetal pups from all crosses remained elevated over controls, the levels varied. When the dam and some siblings were heterozygous, amniotic fluid galactitol from GALT-null fetal pups at GD21 was comparable to the levels reported from second trimester human CG amniotic fluid. When the dam was GALT-null, but some siblings were heterozygous, the median galactitol level in amniotic fluid was 2.45-fold higher.

When the dam and all siblings were GALT-null, the median amniotic fluid galactitol level was 5.67-fold higher. GALT-null fetal pups also showed significant growth delay <i>in utero</i>, but only when the dam and all siblings were GALT-null. That growth of GALT-null fetal pups was fully rescued by gestation within a heterozygous dam despite the persistence of moderately elevated galactose metabolites raises the possibility that babies with CG developing within a carrier mother might also be at least partially protected <i>in utero</i> from the adverse consequences of their GALT-deficiency.</p></div>

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Where it is published

Catalogue records · 1

Topics

Inferred from text
Disease 75%
Provenance · 2 source records, 36 field assertions
SourceKeyLast seenRaw
figshareoai:figshare.com:article/3395941110 d agoJSON v1
Loughborough Research Repositoryoai:figshare.com:article/3395941110 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · figshare comconnector:figshare_com@1.0.0
concepts[disease].local:disease:diseaseenrichment · figshare comkeyword-concept-rules@1.0.0title+description (75%)
concepts[field].anzsrc:group:3101mapping · figshare comvocabulary-mapper@1.0.0keywords['Cell Biology']
concepts[field].anzsrc:group:3101mapping · repository lboro ac ukvocabulary-mapper@1.0.0keywords['Cell Biology']
concepts[field].anzsrc:group:3105mapping · repository lboro ac ukvocabulary-mapper@1.0.0keywords['Genetics']
concepts[field].anzsrc:group:3105mapping · figshare comvocabulary-mapper@1.0.0keywords['Genetics']
concepts[field].anzsrc:group:3107mapping · repository lboro ac ukvocabulary-mapper@1.0.0keywords['Microbiology']
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