Evidence map›Paper›PMID 40125546›Full record

ArticleMolecular genetics and metabolism reports2025

Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation.

Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, Takuma Tsuzuki-Wada, Megumi Saito-Tsuruoka, Takuya Fushimi, Kei Murayama, Yuji Akiyama, Toshihide Mimura

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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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Kazuhiro YokotaDepartment of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Akira OhtakeDepartment of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Taro YamazakiDepartment of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Takuma Tsuzuki-WadaDepartment of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Megumi Saito-TsuruokaDepartment of Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Takuya FushimiDepartment of Metabolism, Chiba Children 's Hospital, Chiba, Japan.
Kei MurayamaDepartment of Metabolism, Chiba Children 's Hospital, Chiba, Japan.
Yuji AkiyamaDepartment of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan.
Toshihide MimuraDepartment of Rheumatology and Applied Immunology, Faculty of Medicine, Saitama Medical University, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carbamoyl phosphate synthetase 1 (CPS1) deficiency (OMIM#237300) is a rare inherited disorder due to complete or partial lack of the CPS1 enzyme. Polymyositis is a relatively rare systemic inflammatory autoimmune disease. Here, we report a 59-year-old Japanese woman diagnosed with late-onset CPS1 deficiency during polymyositis treatment. The polymyositis appeared two years before the diagnosis of CPS1 deficiency. Prednisolone (PSL) at 35 mg/day initial dosage, promptly alleviated the symptoms. However, the patient, without apparent cause, suddenly developed confusion progressing to unconsciousness and coma. Upon admission, the patient's plasma ammonia levels were 458 μg/dL (269 μM). Plasma amino acid analysis revealed decreased citrulline levels and elevated glutamine levels. Genetic analysis of

Indexed as

Carbamoyl phosphate synthetase 1 deficiencyHyperammonemiaLiver transplantationPolymyositisUrea cycle disorder

Identifiers

PMID40125546
PMCPMC11928813

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