:

Manojkumar G Patil1, Neha Tyagi1, Om Prasanth Reddy Avuthu1

  • 1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

Cureus
|August 30, 2024
PubMed
概括

谷氨酸酸尿症1型 (GA1),一种罕见的遗传疾病,由谷氨酸-CoA脱酶缺乏引起. 早期诊断和治疗,包括低素和低卡尼丁的饮食,对于减少严重的神经症状和死亡率至关重要.