El-Hattab Ayman W, Almannai Mohammed, Scaglia Fernando
Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
J Inborn Errors Metab Screen. 2017 Jan;5. doi: 10.1177/2326409817697399. Epub 2017 Mar 24.
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome. L-citrulline raises NO production to a greater extent than L-arginine; therefore, L-citrulline may have a better therapeutic effect. The clinical effect of L-citrulline has not yet been studied and clinical studies on L-arginine, which are limited, only evaluated the stroke-like episodes aspect of the disease. Controlled studies are still needed to assess the clinical effects of L-arginine and L-citrulline on different aspects of MELAS syndrome.
线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征是一种母系遗传的线粒体疾病,临床表现多样。除能量产生受损外,MELAS综合征还存在一氧化氮(NO)缺乏,导致微血管血液灌注受损,进而引发包括卒中样发作、肌病和乳酸血症在内的多种并发症。补充NO前体L-精氨酸和L-瓜氨酸可增加NO生成,因此可能对MELAS综合征具有治疗作用。L-瓜氨酸比L-精氨酸更能提高NO生成;因此,L-瓜氨酸可能具有更好的治疗效果。L-瓜氨酸的临床效果尚未得到研究,而关于L-精氨酸的临床研究有限,仅评估了该疾病的卒中样发作方面。仍需进行对照研究,以评估L-精氨酸和L-瓜氨酸对MELAS综合征不同方面的临床效果。