Diagnosis and literature review of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome
Kong Fancong1，2, Gong Li1, Lyu Zhanyun1, Tian Wenjing1, Cai Ying1,2， Yang Yan1，2
1Department of Neurology, Affiliated Hospital of Jining Medical University， Jining 272029, China；2Clinical Medicine, Jining Medical University， Jining 272067, China;
Abstract：ObiectiveTo explore the clinical diagnostic features of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome（MEGDEL syndrome）. MethodsThe clinical data of a 22-year-old patient who was diagnosed in Department of Neurology, Affiliated Hospital of Jining Medical University was retrospectively analyzed, and relevant literatures were reviewed. ResultsThe male patient with 12-year-old onsets were mainly characterized by neurodegeneration, progressive dystonia and transient liver dysfunction, increased levels of 3-methylglutaric aciduria（23.28mmol/mol creatinine） and 3-methylglutaconic aciduria（145.71mmol/mol creatinine） in urine. For genetic testing, it was the first time that found compound heterozygous mutations in the SERAC1 gene c.1498G＞A and c.1645_1646 insATC.Finally,this patient was confirmed to be MEGDEL syndrome. ConclusionsMEGDEL syndrome mainly damages the central nervous system.Affected patients show neurodegeneration and progressive dystonia. Confirmation of diagnosis delies on the identification of a disease-causing mutation in the SERAC1 gene.
孔凡丛 巩利 吕占云 田文静 蔡莹 杨燕 . 3-甲基戊烯二酸尿症伴耳聋、脑病及Leigh样综合征的诊断并文献复习[J]. 中华诊断学电子杂志, 2019, 7(4): 244-248.
Kong Fancong, Gong Li, Lyu Zhanyun, Tian Wenjing, Cai Ying， Yang Yan. Diagnosis and literature review of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome. zhzdx, 2019, 7(4): 244-248.
