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

被引：49

作者：

Berry, GT

Hunter, JV

Wang, ZY

Dreha, S

Mazur, A

Brooks, DG

Ning, C

Zimmerman, RA

Segal, S

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Endocrinol Diabet, Philadelphia, PA 19104 USA

[2] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Dept Pediat,Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA

[4] Childrens Hosp Philadelphia, Metab Res Lab, Philadelphia, PA 19104 USA

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 02期

关键词：

D O I：

10.1067/mpd.2001.110423

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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 similar to8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

引用

页码：260 / 262

页数：3