HMRS Study in Siblings with Disorder of Respiratory Chain Complex I Activity without Established Molecular Background

We report the results of follow-up study of the siblings with disorder of respiratory chain complex I activity without established molecular background. The dynamics of the metabolic changes was studied during two years using the H NMR in vivo method. The spectra were acquired from the cerebellum. The NAA relative levels as well as lipids and lactate were found to be the most sensitive markers of disturbances of mitochondrial processes. The MRS findings are clearly related to the patients’ symptoms.