Abstract
Purpose: In vivo magnetic resonance spectroscopy (MRS) was applyed to further clarify the pathogenesis of neurological abnormalities in galactosemia. Possible mechanisms, by which galactose (Gal) and/or its metabolites may lead to neurological symptoms include (1) toxic edema due to enhanced brain galactitol (Gal-OH) concentrations, (2) changes within the second messenger pathway, and (3) changes cf the energy state of the brain.
Methods: Six patients, aged 18 - 29 years, with classical galactosemia under dietary treatment underwent localized brain MRS (1H and 31P) and magnetic resonance imaging (MRI). IQ ranged over 45 - 97. dysarthria, a mild resting and intention tremor were present in two patients. Gal-1-phosphat: (Gal-l-P) levels in erythrocytes were 1.1 - 3.7 mg/dl, plasma concentrations of Gal-OH were 8.4 - 14.2 μmol/l.
Results: MRI revealed abnormal peripheral myelination in five and enlargement of side ventricles in two patients. Brain Gal-OH was below delegability (<1 mmol/l). Concentrations of inositol plus inositol phospohates were within the normal range. No changes in free inorganic phosphate plus Gal-1-F, phosphocreatine, and ATP and no indications for elevated lactate, i.e. no changes of the energy state of the brain were obtained.
Conclusion: Brain spectra indicated normal metabolite concentrations as compared to healthy controls.
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Möiler, H., Ullrich, K., Koch, HG. et al. 163 MAGNETIC RESONANCE SPECTROSCOPY IN GALACTOSEMIA. Pediatr Res 36, 30 (1994). https://doi.org/10.1203/00006450-199407000-00163
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DOI: https://doi.org/10.1203/00006450-199407000-00163