Arginine and Citrulline for the Treatment of MELAS Syndrome

• Main Authors: Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG
• Format: Article
• Language: English
• Published: SciELO 2017-03-01
• Series: Journal of Inborn Errors of Metabolism and Screening
• Online Access: https://doi.org/10.1177/2326409817697399

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) 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’ aspects 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.