In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy.
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.
Berry
G T
GT
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.
Hunter
J V
JV
Wang
Z
Z
Dreha
S
S
Mazur
A
A
Brooks
D G
DG
Ning
C
C
Zimmerman
R A
RA
Segal
S
S
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
D004376:Galactitol