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

Gerard T. Berry, Jill V. Hunter, Zhiyue Wang, Steffi Dreha, Alice Mazur, David G. Brooks, Cong Ning, Robert A. Zimmerman, Stanton Segal

Research output: Contribution to journalArticle

46 Scopus citations

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 ∼8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

Original languageEnglish (US)
Pages (from-to)260-262
Number of pages3
JournalJournal of Pediatrics
Volume138
Issue number2
DOIs
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Berry, G. T., Hunter, J. V., Wang, Z., Dreha, S., Mazur, A., Brooks, D. G., Ning, C., Zimmerman, R. A., & Segal, S. (2001). In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. Journal of Pediatrics, 138(2), 260-262. https://doi.org/10.1067/mpd.2001.110423