Diagnosis and literature review of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome

Obiective To explore the clinical diagnostic features of 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome(MEGDEL syndrome). Methods The 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. Results The 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. Conclusions MEGDEL 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