Fernando Scaglia, MD
Mitochondrial cytopathies, other inborn errors of metabolism
I have been involved in clinical research studies that are evaluating nitric oxide flux and production in children with MELAS syndrome. This mitochondrial syndrome is associated with metabolic stroke episodes and it is thought that these episodes could reflect the effect of nitric oxide depletion in the small vasculature. By assessing nitric oxide production and the effect of arginine and citrulline supplementation in these children, potential therapeutic strategies could be offered to them. Furthermore, I am also interested in conducting glucose kinetic studies to assess the glucose metabolism and to better understand the mechanisms of diabetes in patients with this syndrome.
Another project where I am involved is the identification of nuclear gene defects of pediatric mitochondrial disorders and in particular mitochondrial DNA depletion syndromes through exome sequencing. Other research interests focus on a natural history study of mitochondrial disorders in collaboration with other centers in United States of America and Canada.
El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Molecular Genetics andMetabolism 2012 Jul 6. [Epub ahead of print].
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