Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria

A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked methyl malonic aciduria. Patient had remarkable im...

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Autores principales: Murgai, Aditya, Deshmukh, Aviraj, Puri, Vinod, Chaudhry, Neera, Kapoor, Seema
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/PMC4489058/
https://www.ncbi.nlm.nih.gov/pubmed/26167218
http://dx.doi.org/10.4103/1817-1745.159203
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author Murgai, Aditya
Deshmukh, Aviraj
Puri, Vinod
Chaudhry, Neera
Kapoor, Seema
author_facet Murgai, Aditya
Deshmukh, Aviraj
Puri, Vinod
Chaudhry, Neera
Kapoor, Seema
author_sort Murgai, Aditya
collection PubMed
description A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked methyl malonic aciduria. Patient had remarkable improvement following withdrawal of valproate and substitution of hydroxocobalamin.
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spelling pubmed-44890582015-07-12 Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria Murgai, Aditya Deshmukh, Aviraj Puri, Vinod Chaudhry, Neera Kapoor, Seema J Pediatr Neurosci Case Report A, 11-year-old male, with delayed milestones after the age of 6 months with recurrent myoclonus and generalized tonic-clonic seizures had clinical worsening after institution of valproate, was detected to have elevated serum lactate level and marked methyl malonic aciduria. Patient had remarkable improvement following withdrawal of valproate and substitution of hydroxocobalamin. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4489058/ /pubmed/26167218 http://dx.doi.org/10.4103/1817-1745.159203 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
Murgai, Aditya
Deshmukh, Aviraj
Puri, Vinod
Chaudhry, Neera
Kapoor, Seema
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title_full Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title_fullStr Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title_full_unstemmed Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title_short Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
title_sort valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489058/
https://www.ncbi.nlm.nih.gov/pubmed/26167218
http://dx.doi.org/10.4103/1817-1745.159203
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AT chaudhryneera valproatetherapyexacerbatingintermediatephenotypeofmethylmalonicaciduria
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