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The Journal of pediatrics

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


PMID 11174626

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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