title: 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.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
authors.forename: J V
authors.initials: JV
authors.lastname: Hunter
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.forename: S
authors.initials: S
authors.lastname: Dreha
authors.forename: A
authors.initials: A
authors.lastname: Mazur
authors.forename: D G
authors.initials: DG
authors.lastname: Brooks
authors.forename: C
authors.initials: C
authors.lastname: Ning
authors.forename: R A
authors.initials: RA
authors.lastname: Zimmerman
authors.forename: S
authors.initials: S
authors.lastname: Segal
mesh_terms: D001921:Brain / Q000378:metabolism*; D020739:Brain Diseases, Metabolic, Inborn / Q000378:metabolism*; D004376:Galactitol / Q000493:pharmacokinetics*; D005693:Galactosemias / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D004376:Galactitol