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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.
AuthorsG T Berry, J V Hunter, Z Wang, S Dreha, A Mazur, D G Brooks, C Ning, R A Zimmerman, S Segal
JournalThe Journal of pediatrics (J Pediatr) Vol. 138 Issue 2 Pg. 260-2 (Feb 2001) ISSN: 0022-3476 [Print] United States
PMID11174626 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Galactitol
Topics
  • Brain (metabolism)
  • Brain Diseases, Metabolic, Inborn (metabolism)
  • Galactitol (pharmacokinetics)
  • Galactosemias (metabolism)
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Spectroscopy
  • Male

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