Article citationsMore >>

Meral Topçu., Florence Jobard., Sophie Halliez., Turgay Coskun, Cengiz Yalçinkayal, Filiz Ozbas Gerceker, Ronald J.A. Wanders, Jean-François Prud'homme, Mark Lathrop, Meral Özguc, Judith Fischer, L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1, Human Molecular Genetics, Volume 13, Issue 22, 15 November 2004, Pages 2803-2811.

has been cited by the following article:

Article

Case Report: L-2-Hydroxyglutaric Aciduria in Sibling Sisters

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 Publishing

Cite 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.com

Abstract

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.

Keywords