Clinical Study
Diagnosis and literature review of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome
Fancong Kong, Li Gong, Zhanyun Lyu, Wenjing Tian, Ying Cai, Yan Yang
Published 2019-11-26
Cite as Chin J Diagnostics(Electronic Edition), 2019, 07(4): 244-248. DOI: 10.3877/cma.j.issn.2095-655X.2019.04.006
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(23.28 mmol/mol creatinine) and 3-methylglutaconic aciduria(145.71 mmol/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.
Key words:
3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome; Gene; Diagnosis
Contributor Information
Fancong Kong
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Clinical Medicine, Jining Medical University, Jining 272067, China
Li Gong
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Zhanyun Lyu
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Wenjing Tian
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Ying Cai
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Clinical Medicine, Jining Medical University, Jining 272067, China
Yan Yang
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272029, China
Clinical Medicine, Jining Medical University, Jining 272067, China
