Methylmalonic and propionic acidemias: clinical management update.
Methylmalonic and propionic acidemias: clinical management update.
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DOI：
10.1097/mop.0000000000000422
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发表时间：
2016-12
影响因子：
3.6
通讯作者：
Venditti CP
中科院分区：
文献类型：
--
作者：
Fraser JL;Venditti CP
最近的临床研究和有机酸病甲基丙二酸血症（MMA）和丙酸血症（PA）的治疗管理指南解决了干预措施的范围，以最大限度地提高健康和生活质量。不幸的是，由于急性和慢性全身和终末器官损伤，这些疾病继续导致显著的发病率和死亡率。几十年来，医疗食品的饮食管理一直是治疗的支柱，但控制良好的患者可以表现出生长，发育，心脏，眼科，肾脏和神经系统并发症。患有有机酸病的患者遭受代谢性脑损伤，其以独特的模式靶向基底神经节的特定区域，并且即使在代谢应激期间进行最佳管理，这些损伤也可能发生。肝移植改善了生活质量和代谢稳定性，但在这一人群中移植并不能完全防止脑损伤或视神经病变和心脏病的发展。管理指南应确定对MMA和PA患者的必要筛查，并改善对进行性终末器官疾病的预期管理。肝移植改善了整体代谢控制，但对非再生组织的损伤可能不会减轻。在这些患者中继续使用医疗食品需要前瞻性研究以证明以受控方式获益的证据。
Recent clinical studies and management guidelines for the treatment of the organic acidopathies methylmalonic acidemia (MMA) and propionic acidemia (PA) address the scope of interventions to maximize health and quality of life. Unfortunately, these disorders continue to cause significant morbidity and mortality due to acute and chronic systemic and end-organ injury. Dietary management with medical foods has been a mainstay of therapy for decades, yet well controlled patients can manifest growth, development, cardiac, ophthalmological, renal and neurological complications. Patients with organic acidopathies suffer metabolic brain injury which targets specific regions of the basal ganglia in a distinctive pattern, and these injuries may occur even with optimal management during metabolic stress. Liver transplantation has improved quality of life and metabolic stability, yet transplantation in this population does not entirely prevent brain injury or the development of optic neuropathy and cardiac disease. Management guidelines should identify necessary screening for patients with MMA and PA, and improve anticipatory management of progressive end-organ disease. Liver transplantation improves overall metabolic control, but injury to non-regenerative tissues may not be mitigated. Continued use of medical foods in these patients requires prospective studies to demonstrate evidence of benefit in a controlled manner.