Evidence map›Paper›PMID 41378236›Full record

ArticleMolecular syndromology2025

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.

Deniz Aslan, Eyyup Uctepe, Ahmet Yesilyurt, Fatma Nisa Esen, Buket Dalgıç

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Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

What it found

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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

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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

5 authors.

Deniz AslanDepartment of Pediatrics, Section of Hematology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Eyyup UctepeAcibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.
Ahmet YesilyurtAcibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.
Fatma Nisa EsenAcibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.
Buket DalgıçDepartment of Pediatrics, Section of Gastroenterology, Faculty of Medicine, Gazi University, Ankara, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Cobalamin J disease (CblJ) is an ultrarare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic academia and homocystinuria (MAHCJ; 614857). Case Presentation: A new patient with MAHCJ, representing the eighth documented instance, is reported here. A novel homozygous missense variant c.1591C>T (p.Arg531Trp) in exon 17 of Discussion: This patient is the oldest diagnosed with MAHCJ and has the longest documented clinical course. This report expands the known clinical and molecular spectrum of this rare disease. We recommend remembering cobalamin defects in the differential diagnosis of unresolved abdominal pain attacks.

Indexed as

ABCD4 geneMethylmalonic acidemiaMethylmalonic aciduria and homocystinuriaPhenotypic expansionRecurrent abdominal pain

Identifiers

PMID41378236
PMCPMC12688352

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