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- Title
Fumaric aciduria: A rare cause of refractory epilepsy.
- Authors
Yoganathan, Sangeetha; Srinivasaraghavan, Rangan; Kumar, Madhan; Kratz, Lisa; Mular, Shraddha; Sudhakar, Sniya; Malik, Prateek; Chandran, Mahalakshmi; Thomas, Maya; Danda, Sumita
- Abstract
A case study of a five‑year‑old girl, first born to a third‑degree consanguineous couple was brought for evaluation of developmental delay and seizures noticed from 18 months of age. Topics include Inborn errors of metabolism (IEM) are a heterogeneous group of inherited disorders that may result from enzyme deficiencies or cofactor defects; and urine organic acid analysis by gas chromatography‑mass spectrometry revealed an approximately ten‑fold increase in the excretion of fumaric acid.
- Subjects
TREATMENT of epilepsy; GENETICS of epilepsy; ANTICONVULSANTS; ELECTROENCEPHALOGRAPHY; EPILEPSY; NEURAL conduction; GENOTYPES; INBORN errors of metabolism; ACYCLIC acids; CHILD development deviations; PHENOTYPES; CHILDREN
- Publication
Annals of Indian Academy of Neurology, 2022, Vol 25, Issue 4, p738
- ISSN
0972-2327
- Publication type
Case Study
- DOI
10.4103/aian.aian_47_22