Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia
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Arginine and citrulline for the treatment of MELAS syndrome.
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.
期刊介绍:
The Journal of Inborn Errors of Metabolism and Screening (JIEMS) is an online peer-reviewed open access journal devoted to publishing clinical and experimental research in inherited metabolic disorders and screening, for health professionals and scientists. Original research articles published in JIEMS range from basic findings that have implications for disease pathogenesis and therapy, passing through diagnosis and screening of metabolic diseases and genetic conditions, and therapy development and outcomes as well. Original articles, reviews on specific topics, brief communications and case reports are welcome. JIEMS aims to become a key resource for geneticists, genetic counselors, biochemists, molecular biologists, reproductive medicine researchers, obstetricians/gynecologists, neonatologists, pediatricians, pathologists and other health professionals interested in inborn errors of metabolism and screening.