National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MD, USA.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Nat Metab. 2023 Jan;5(1):5-7. doi: 10.1038/s42255-022-00724-4.
Investigation of multi-omic changes and their effects on regulation of metabolic pathways confirm anaplerotic deficiencies in methylmalonic acidaemia, strengthening the need for future therapies aimed at replenishing intermediates of the tricarboxylic acid cycle.
对多组学变化及其对代谢途径调控影响的研究证实了甲基丙二酸血症中氨甲酰磷酸合成酶缺乏,这加强了未来治疗方法的必要性,旨在补充三羧酸循环的中间产物。