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在新加坡 - - 单一中心体验中,对素缺乏症患者进行深度表型鉴定

Mildrid Yeo1, Jeannette Lay Kuan Goh1, Ai Ling Koh1

  • 1Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore.

Molecular genetics and metabolism
|August 8, 2025
PubMed
概括

素缺乏症 (CD) 是一种影响多种途径的代谢障碍. 标准治疗,包括MCT油和饮食调整,导致生化正常化,增长改善,以及东南亚患者的稳定肝脏成像.

关键词:
阿斯巴酸/谷氨酸载体2 (AGC2) 是一种素缺乏症 (CD) 是一种2型的花烯酸血症 2型的花烯酸血症氨酸 (Citrulline) 是一种氨酸.新生儿肝内胆固醇症是由素缺乏症 (NICCD) 引起的.在 SLC25A1313 中.

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