Evidence map›Paper›PMID 41798075›Full record

ArticleMolecular genetics and metabolism reports2026

Galactose tolerance in adults with classical galactosaemia. Considering the gaps.

L A Shakerdi, C Newman Thacker, K Moore, A Sheerin, M Noga, M E Rubio-Gozalbo, G T Berry, J J O'Byrne, R Saldova, E P Treacy

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

L A ShakerdiNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
C Newman ThackerNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
K MooreNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
A SheerinNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
M NogaMosakids Childrens Hospital/Laboratory of Clinical Genetics, Maastricht University Medical Centre, Member of MetabERN and member of United for Metabolic Diseases, Grow Research Institute, Maastricht University, Maastricht, the Netherlands.
M E Rubio-GozalboMosakids Childrens Hospital/Laboratory of Clinical Genetics, Maastricht University Medical Centre, Member of MetabERN and member of United for Metabolic Diseases, Grow Research Institute, Maastricht University, Maastricht, the Netherlands.
G T BerryDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Centre for Orphan Disease Research, Boston, MA, United States.
J J O'ByrneNational Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.
R SaldovaUCD School of Medicine, College of Health and Agricultural Science (CHAS), University College Dublin (UCD), Dublin, Ireland.
E P TreacyUCD School of Medicine, College of Health and Agricultural Science (CHAS), University College Dublin (UCD), Dublin, Ireland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classical galactosaemia (CG, OMIM 230400) is a rare inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase. The available modality of treatment, a galactose-restricted diet, is effective in preventing life-threatening neonatal symptoms. However long-term complications including neurological, speech and fertility issues in females remain prevalent. Methods: This retrospective review reports the experience of mild-moderate relaxation of dietary galactose intake over time in a cohort of 31 Irish CG adult patients with established RBC Gal-1-P, and novel IgG Results: RBC Gal-1-P levels increased with increased galactose intake with statistically significant differences only between the lowest and highest galactose intake group ( Conclusion: Moderate relaxation of dietary galactose intake (up to 500 mg/day) may be well tolerated in the majority of CG adults. These data suggest that serum

Indexed as

AdultsClassical galactosaemiaDietary galactoseGalactose-1-phosphateImmunoglobulin GN-glycosylation

Identifiers

PMID41798075
PMCPMC12963900

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.