Evidence map›Paper›PMID 40248769›Full record

ArticleMolecular genetics and metabolism reports2025

Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review.

Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, Jean-François Benoist, Guilia Barcia, Boris Keren, Inès Mannes, Clément Pontoizeau, Charlotte Mansat, Apolline Imbard

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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.

Etienne MondésertDepartment of Biochemistry, University Hospital of Montpellier, Montpellier, France.
Juliette BouchereauReference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Manuel SchiffReference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris and Université Paris Cité, Paris, France.
Jean-François BenoistDepartment of Biochemistry, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France and Université Paris-Saclay, Paris, France.
Guilia BarciaDepartment of Genetics, Necker-Enfants Malades Hospital, Assistance Publique Hospital of Paris, Paris, France.
Boris KerenDepartment of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique Hospital of Paris, Paris, France and Sorbonne University, Paris, France.
Inès MannesDepartment of Pediatric Radiology, AP-HP, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
Clément PontoizeauInserm UMRS_1163, Institut Imagine, Paris, France.
Charlotte MansatDepartment of Pediatric Neurology, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France and Department of General Pediatrics, Paris-Saclay Hospital, GHNE, Orsay, France.
Apolline ImbardDepartment of Biochemistry, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France and Université Paris-Saclay, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Branched-chain amino acid transferase type 2 (BCAT2) deficiency is a rare autosomal recessive genetic condition, with only seven cases described to date. It results in an elevation of branched-chain amino acid (BCAA) plasma concentrations, predominantly on valine, with normal concentration of plasma allo-isoleucine and urine branched-chain α-keto acids (BCKA). Despite this constant biochemical feature, clinical consequences remain unclear with heterogeneous and far less severe than maple syrup urine disease (MSUD) reported phenotypes, one individual being even asymptomatic. We report herein the eighth case of genetically confirmed BCAT2 deficiency, accompanied by a literature review and a discussion about the potential pathogenicity of this condition. An 11-year-old boy presented with a rapidly reversible initial acute neurological episode suggesting an epileptic seizure. Abnormalities on cerebral magnetic resonance imaging and suspicion of cognitive impairment led to further metabolic investigations. BCAT2 deficiency has been mentioned in front of increased BCAAs (valine = 1667 μmol/L, leucine = 701 μmol/L, isoleucine = 561 μmol/L). A homozygous novel nonsense variant on

Indexed as

BCAT2Branched-chain amino acidInborn error of metabolismPyridoxineValine

Identifiers

PMID40248769
PMCPMC12005323

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.