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Annals of Indian Academy of Neurology • Vol 25 • No 4
Fumaric Aciduria
July 2022 • Sumita Danda, Sangeetha Yoganathan, Rangan Srinivasaraghavan, Madhan Kumar, Lisa Kratz, Shraddha Mular, SniyaV Sudhakar, Prateek Malik, Mahalakshmi C…
Sir, Inborn errors of metabolism (IEM) are a heterogeneous group of inherited disorders that may result from enzyme deficiencies or cofactor defects, leading to a block in the biochemical pathway. The age at onset and clinical manifestations are often variable. Though metabolic disorders are rare causes of epilepsy, seizures are frequently encountered in children with IEM.[1] Here, we describe a child with polymorphic seizures who was diagnosed to have fumaric aciduria. A five-year-old girl, first born to a third-…
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