Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy

Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder caused by a defect in the glycine cleavage enzyme system, resulting in high glycine concentrations in the brain. We report a neonate in which proton magnetic resonance spectroscopy provided biochemical evidence of elevated brain glycine l...

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Detalles Bibliográficos
Autores principales: McAdams, Ryan Michael, Richards, Todd L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898175/
https://www.ncbi.nlm.nih.gov/pubmed/27307833
http://dx.doi.org/10.2484/rcr.v4i4.310
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author McAdams, Ryan Michael
Richards, Todd L.
author_facet McAdams, Ryan Michael
Richards, Todd L.
author_sort McAdams, Ryan Michael
collection PubMed
description Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder caused by a defect in the glycine cleavage enzyme system, resulting in high glycine concentrations in the brain. We report a neonate in which proton magnetic resonance spectroscopy provided biochemical evidence of elevated brain glycine levels and facilitated early diagnosis of NKH and guided clinical management.
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spelling pubmed-48981752016-06-15 Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy McAdams, Ryan Michael Richards, Todd L. Radiol Case Rep Article Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder caused by a defect in the glycine cleavage enzyme system, resulting in high glycine concentrations in the brain. We report a neonate in which proton magnetic resonance spectroscopy provided biochemical evidence of elevated brain glycine levels and facilitated early diagnosis of NKH and guided clinical management. Elsevier 2015-11-06 /pmc/articles/PMC4898175/ /pubmed/27307833 http://dx.doi.org/10.2484/rcr.v4i4.310 Text en © 2009 The Authors. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
McAdams, Ryan Michael
Richards, Todd L.
Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title_full Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title_fullStr Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title_full_unstemmed Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title_short Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
title_sort detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898175/
https://www.ncbi.nlm.nih.gov/pubmed/27307833
http://dx.doi.org/10.2484/rcr.v4i4.310
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AT richardstoddl detectionofnonketotichyperglycinemiainaneonateusingprotonmagneticresonancespectroscopy

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