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

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

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 de...

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Bibliographic Details
Main Authors: Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, Takuma Tsuzuki-Wada, Megumi Saito-Tsuruoka, Takuya Fushimi, Kei Murayama, Yuji Akiyama, Toshihide Mimura
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Carbamoyl phosphate synthetase 1 deficiency
Urea cycle disorder
Hyperammonemia
Liver transplantation
Polymyositis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000151
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