Abstract
Using localized proton magnetic resonance spectroscopy (1H-MRS), accumulation of branchedchain amino acids (BCAA) and their corresponding 2-oxo acids (BCOA) could be non-invasively demonstrated in the brain of a 9-year-old girl suffering from classical maple syrup urine disease. During acute metabolic decompensation, the compounds caused a signal at a chemical shift of 0.9 ppm which was assigned by in vitro experiments. The brain tissue concentration of the sum of BCAA and BCOA could be estimated as 0.9 mmol/l. Localized1H-MRS of the brain appears to be suitable for examining patients suffering from maple syrup urine disease in different metabolic states.
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Heindel, W., Kugel, H., Wendel, U. et al. Proton magnetic resonance spectroscopy reflects metabolic decompensation in maple syrup urine disease. Pediatr Radiol 25, 296–299 (1995). https://doi.org/10.1007/BF02011106
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DOI: https://doi.org/10.1007/BF02011106