DNAJC12 缺陷:在两个兄弟姐妹中,轻微的超氨酸血症和神经功能障碍
Edoardo Fino1, Alessandro Barbato2, Giusi M Scaturro3
1Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy.
Molecular genetics and metabolism reports
|December 6, 2023
概括
DNAJC12 缺乏导致两个姐妹的轻度高氨血症 (HPA). 通过饮食和补充剂的早期治疗改善了神经症状,突出了DNAJC12缺乏症作为无法解释的HPA的关键考虑因素.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 神经科学是一个神经科学.
背景情况:
- DNAJC12辅助蛋白缺乏症是一种新发现的代谢障碍.
- 它解释了与PAH或BH4通路基因变异无关的轻度超氨酸血症 (HPA) 的病例.
- 这种缺陷是一个独特的临床实体,需要在代谢诊断中考虑.
研究的目的:
- 为了报道两位被诊断为DNAJC12缺乏症的姐妹.
- 调查DNAJC12相关HPA的临床表现和治疗结果.
- 强调在无法解释的HPA病例中考虑DNAJC12缺乏的重要性.
主要方法:
- 在两位患有不明原因HPA的姐妹中,对DNAJC12的遗传分析.
- 神经系统症状和发育进展的临床评估.
- 对低氨氨酸饮食,BH4,L-DOPA和5-OH-Tryptophan的治疗反应的评估.
主要成果:
- 发现这两位姐妹在DNAJC12基因中都存在先前描述的同卵性缺失.
- 患者1,早期诊断,主要表现为语言障碍,尽管饮食不良.
- 第二名患者,后来被诊断出,经历了治疗和一些运动技能的改善,经历了最小的神经症状进展.
结论:
- DNAJC12 缺乏是无法解释的轻度HPA的一个重要原因.
- 早期诊断和干预对于管理神经系统并发症至关重要.
- 这种情况应该在患者中进行例行查,无法解释的HPA.
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