1Chief of Diagnostic Radiology Department, Educational – Surgical Clinic of Azerbaijan Medical University
2Diagnostic Radiology Department, Educational – Surgical Clinic of Azerbaijan Medical University
American Journal of Medical Case Reports.
2022,
Vol. 10 No. 4, 93-97
DOI: 10.12691/ajmcr-10-4-3
Copyright © 2022 Science and Education PublishingCite this paper: Rasim Bakhtiyar Bayramov, Mehriban Musa Sariyeva, Narmin Eldar Maharramli. Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters.
American Journal of Medical Case Reports. 2022; 10(4):93-97. doi: 10.12691/ajmcr-10-4-3.
Correspondence to: Mehriban Musa Sariyeva, Diagnostic Radiology Department, Educational – Surgical Clinic of Azerbaijan Medical University. Email:
dr.sariyeva@gmail.comAbstract
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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