Urea cycle disorders constitute a group of rare inherited disorders of the intermediate metabolism. Despite all diagnostic and therapeutic efforts, neonatal mortality of affected individuals is still up to 50% due to hyperammonemic brain damage. The funded study investigates whether MR morphological and spectroscopic changes in the brains of children with urea cycle disorders 1.) correlate with the severity of metabolic decompensation(s) and 2.) qualify as predictors for the neurological and/or cognitive outcome. The overall aim of this study is to establish a standard for the use of MR imaging in patient care. The study is carried out in close collaboration between Matthias Zielonka and Roland Posset, MDs.

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