Evidence map›Paper›PMID 42396593›Full record

ArticleMolecular genetics and metabolism reports2026

Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases.

Manuela Araque, Christopher D Ma, Amanda Jordan, Denise Faust, Lisa McGuire, Herbert L Bonkovsky

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
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

6 authors.

Manuela AraqueDepartment of Internal Medicine, University of Miami Miller School of Medicine, Miami, FL 33131, United States of America.
Christopher D MaDepartment of Internal Medicine, University of Miami Miller School of Medicine, Miami, FL 33131, United States of America.
Amanda JordanDepartment of Public Health, Meridian Health Services, Muncie, IN 47302, United States of America.
Denise FaustSection on Gastroenterology & Hepatology, Department of Internal Medicine, Wake Forest University School of Medicine and Advocate Health Wake Forest Baptist, Winston-Salem, NC 27157, United States of America.
Lisa McGuireDepartment of Pediatric Neurology, Ascension Health, 8414 Naab Rd., Indianapolis, IN 46260, United States of America.
Herbert L BonkovskySection on Gastroenterology & Hepatology, Department of Internal Medicine, Wake Forest University School of Medicine and Advocate Health Wake Forest Baptist, Winston-Salem, NC 27157, United States of America.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: A male infant presented at three months of age with generalized ataxia, hypotonia, aspiration of liquids and recurrent generalized seizures. He was treated with levetiracetam and phenobarbital. Methods: Extensive testing, including whole genome sequencing was done. Results: He had two known pathogenic variants in the Conclusion: No effective disease-modifying therapy currently exists for biallelic HMBS deficiency. Substantial neurological injury is present by the time of diagnosis and seems irreversible.

Indexed as

5-aminolevulinic acidAcute intermittent porphyriaBiallelic enzyme deficiencyDevelopmental delaySeizuresStatus epilepticus

Identifiers

PMID42396593
PMCPMC13325977

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Registered trials

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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.