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

Authors
Berry, GT Hunter, JV Wang, ZY Dreha, S Mazur, A Brooks, DG Ning, C Zimmerman, RA Segal, S
Citation
Gt. Berry et al., In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy, J PEDIAT, 138(2), 2001, pp. 260-262
Citations number
12
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
138
Issue
2
Year of publication
2001
Pages
260 - 262
Database
ISI
SICI code
0022-3476(200102)138:2<260:IVEOBG>2.0.ZU;2-A
Abstract
In a newborn infant with galactose-1-phosphate uridyltransferase deficiency and encephalopathy, brain magnetic resonance imaging revealed cytotoxic ed ema in white matter. Using in vivo proton magnetic resonance spectroscopy, we detected similar to8 mmol galactitol per kilogram of brain tissue, an am ount potentially relevant to the pathogenesis of brain edema.