Research progress on the application of multi-modal magnetic resonance imaging techniques in ornithine transcarbamylase deficiency
10.3760/cma.j.cn101070-20240824-00536
- VernacularTitle:多模态磁共振影像技术在鸟氨酸氨甲酰转移酶缺乏症中的应用进展
- Author:
Yuan DING
1
;
Ming CHENG
1
;
Yuting SHI
1
;
Di WU
1
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院内分泌遗传代谢科，北京 100045
- Publication Type:Journal Article
- Keywords:
Magnetic resonance imaging;
Ornithine transcarbamylase deficiency;
Muti-modal imaging
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(2):145-148
- CountryChina
- Language:Chinese
-
Abstract:
Ornithine transcarbamylase deficiency is the most common subtype of urea cycle disorders, and its primary sequelae are cognitive and neurobehavioral impairments, particularly in executive function and working memory.Early prevention and identification to mitigate neurological damage are challenging in diagnosis and treatment and also a research focus.Hyperammonemia is the main cause of brain injury in patients with this disease, multi-modal imaging techniques can characterize the disease pathologically and biochemically at different levels, and also assist in its early diagnosis and intervention.In this review, recent advances in the application of neuroimaging in patients with ornithine transcarbamylase deficiency are summarized to enhance clinical physicians′ understanding of the neurological imaging.
