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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Detalles Bibliográficos
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
Descripción
Sumario: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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