Evidence map›Paper›PMID 42273982›Full record

ArticleThe Medical journal of Australia2026

When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease.

Shauna Madigan, Georgina England, Wayne Rankin

Abstract readCase Reports
In one paragraph

Article in The Medical journal of Australia, 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
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

3 authors.

Shauna MadiganHepatology, Leeds Teaching Hospitals, National Health Services Trust, Leeds, UK.
Georgina EnglandAnatomical Pathology, SA Pathology, Adelaide, South Australia, Australia.
Wayne RankinEndocrine and Metabolism Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.ORCID https://orcid.org/0000-0002-4427-9547

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Elevated liver function tests are commonly attributed to hepatic disease but may reflect extrahepatic pathology. We describe the case of an 18-year-old athletic woman with a 2-year history of elevated aspartate aminotransferase (AST), alanine aminotransferase (ALT) and creatine kinase (CK) levels, initially investigated extensively for hepatic causes. Despite normal liver imaging and biopsy, ongoing abnormalities prompted metabolic evaluation, leading to the diagnosis of late-onset Pompe disease. This case highlights the diagnostic challenges of rare metabolic myopathies, the importance of recognising muscle-derived aminotransferase elevation and the need for broad diagnostic consideration when standard investigations are unrevealing.

Indexed as

Alanine TransaminaseAspartate AminotransferasesGlycogen Storage Disease Type IILiverAdolescentCreatine KinaseDiagnosis, DifferentialFemaleHumansLiver Function TestsAlanine TransaminaseAspartate AminotransferasesCreatine Kinaseblood chemical analysisdiagnostic tests and proceduresgenetic testingmetabolic diseasemolecular pathology

Identifiers

PMID42273982
PMCPMC13255006

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.