A rare case of glycine encephalopathy unveiled by valproate therapy

Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental d...

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Autores principales: Subramanian, Velusamy, Kadiyala, Pramila, Hariharan, Praveen, Neeraj, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489059/
https://www.ncbi.nlm.nih.gov/pubmed/26167219
http://dx.doi.org/10.4103/1817-1745.159200
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author Subramanian, Velusamy
Kadiyala, Pramila
Hariharan, Praveen
Neeraj, E.
author_facet Subramanian, Velusamy
Kadiyala, Pramila
Hariharan, Praveen
Neeraj, E.
author_sort Subramanian, Velusamy
collection PubMed
description Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE.
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spelling pubmed-44890592015-07-12 A rare case of glycine encephalopathy unveiled by valproate therapy Subramanian, Velusamy Kadiyala, Pramila Hariharan, Praveen Neeraj, E. J Pediatr Neurosci Case Report Glycine encephalopathy (GE) or nonketotic hyperglycinemia is an autosomal recessive disorder due to a primary defect in glycine cleavage enzyme system. It is characterized by elevated levels of glycine in plasma and cerebrospinal fluid usually presenting with seizures, hypotonia, and developmental delay. In our case, paradoxical increase in seizure frequency on starting sodium valproate led us to diagnose GE. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4489059/ /pubmed/26167219 http://dx.doi.org/10.4103/1817-1745.159200 Text en Copyright: © Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Subramanian, Velusamy
Kadiyala, Pramila
Hariharan, Praveen
Neeraj, E.
A rare case of glycine encephalopathy unveiled by valproate therapy
title A rare case of glycine encephalopathy unveiled by valproate therapy
title_full A rare case of glycine encephalopathy unveiled by valproate therapy
title_fullStr A rare case of glycine encephalopathy unveiled by valproate therapy
title_full_unstemmed A rare case of glycine encephalopathy unveiled by valproate therapy
title_short A rare case of glycine encephalopathy unveiled by valproate therapy
title_sort rare case of glycine encephalopathy unveiled by valproate therapy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489059/
https://www.ncbi.nlm.nih.gov/pubmed/26167219
http://dx.doi.org/10.4103/1817-1745.159200
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