| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-01-09 |
| タイトル |
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|
タイトル |
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
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主題 |
citrulline, Citrullinemia type 2, CTLN2, long-term survival, MCT, NICCD |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Jun, Kido
Johannes, Häberle
Keishin, Sugawara
Toju, Tanaka
Masayoshi, Nagao
Takaaki, Sawada
Yoichi, Wada
Chikahiko, Numakura
Kei, Murayama
Yoriko, Watanabe
Kanako, Kojima-Ishii
Hideo, Sasai
Kiyotaka, Kosugiyama
Kimitoshi, Nakamura
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| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwide study to investigate the clinical manifestations, medical therapy, and long-term outcome in Japanese patients with citrin deficiency, we collected clinical data of 222 patients diagnosed and/or treated at various different institutions between January 2000 and December 2019. In the entire cohort, 218 patients were alive while 4 patients (1 FTTDCD and 3 CTLN2) had died. All patients <20 years were alive. Patients with citrin deficiency had an increased risk for low weight and length at birth, and CTLN2 patients had an increased risk for growth impairment during adolescence. Liver transplantation has been performed in only 4 patients (1 NICCD, 3 CTLN2) with a good response thereafter. This study reports the diagnosis and clinical course in a large cohort of patients with citrin deficiency and suggests that early intervention including a low carbohydrate diet and MCT supplementation can be associated with improved clinical course and long-term outcome. |
| bibliographic_information |
en : Journal of Inherited Metabolic Disease
巻 45,
号 3,
p. 431-444,
発行年 2022-05
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| item_16_source_id_7 |
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収録物識別子 |
0141-8955 |
| item_16_relation_11 |
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関連タイプ |
isVersionOf |
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関連識別子 |
https://doi.org/10.1002/jimd.12483 |
| 権利 |
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権利情報 |
(C) 2022 SSIEM. |
| 権利 |
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権利情報 |
This is the peer reviewed version of the following article: [Jun Kido, Johannes Häberle, Keishin Sugawara, et al. Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease. 2022; 45(3): 431-444.], which has been published in final form at [https://doi.org/10.1002/jimd.12483]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited. |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 出版者 |
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出版者 |
John Wiley and Sons |
10.1002_jimd.12483.pdf (329.6 KB)
