In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.

Abstract

In a newborn infant with galactose-1-phosphate uridyltransferase deficiency and encephalopathy, brain magnetic resonance imaging revealed cytotoxic edema in white matter. Using in vivo proton magnetic resonance spectroscopy, we detected approximately 8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

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@article{Berry2001InVE, title={In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.}, author={G. Berry and Jill V. Hunter and Z Wang and S F Dreha and Alice T Mazur and Daniela Brooks and Chengyun Ning and Robert A. Zimmerman and Steven P. Segal}, journal={The Journal of pediatrics}, year={2001}, volume={138 2}, pages={260-2} }