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Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters
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Rasim Bakhtiyar Bayramov, Mehriban Musa Sariyeva, Narmin Eldar Maharramli
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American Journal of Medical Case Reports. 2022 10 (4). doi: 10.12691/ajmcr-10-4-3
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Keywords: L-2-hydroxyglutaric aciduria, mental retardation, speech difficulties, generalized seizure, febrile seizures, diffuse subcortical white matter lesions
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Context: Our case report presents one of the rarely seen disorders L-2-hydroxyglutaric aciduria. Very little information is given in the literature and it remained undiagnosed until the 1980s. According to our information, only 295 events have been described in the literature till date. Our case report describes the disease manifestations, clinical pictures, and a review of the relevant literature on L-2-hydroxyglutaric aciduria. Our patients were females aged 12 and 13 years, respectively, which were born in consanguineous and Caucasian descent family.
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