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

Gerard T. Berry; Jill V. Hunter; Zhiyue Wang; Steffi Dreha; Alice Mazur; David G. Brooks; Cong Ning; Robert A. Zimmerman; Stanton Segal

doi:10.1067/mpd.2001.110423

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

Gerard T. Berry, Jill V. Hunter, Zhiyue Wang, Steffi Dreha, Alice Mazur, David G. Brooks, Cong Ning, Robert A. Zimmerman, Stanton Segal

Research output: Contribution to journal › Article › peer-review

55 Scopus citations

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 ∼8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

Original language	English (US)
Pages (from-to)	260-262
Number of pages	3
Journal	Journal of Pediatrics
Volume	138
Issue number	2
DOIs	https://doi.org/10.1067/mpd.2001.110423
State	Published - 2001

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1067/mpd.2001.110423

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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 ∼8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.",

author = "Berry, {Gerard T.} and Hunter, {Jill V.} and Zhiyue Wang and Steffi Dreha and Alice Mazur and Brooks, {David G.} and Cong Ning and Zimmerman, {Robert A.} and Stanton Segal",

year = "2001",

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AU - Berry, Gerard T.

AU - Hunter, Jill V.

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AU - Dreha, Steffi

AU - Mazur, Alice

AU - Brooks, David G.

AU - Ning, Cong

AU - Zimmerman, Robert A.

AU - Segal, Stanton

PY - 2001

Y1 - 2001

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AB - 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 ∼8 mmol galactitol per kilogram of brain tissue, an amount potentially relevant to the pathogenesis of brain edema.

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

Abstract

ASJC Scopus subject areas

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