Vitamin B5 improves TANGO2 gene mutations associated defects

Background: Under-diagnosis is likely to be a problem in TANGO2- related disease, and the treatment strategies of it is unknow. Case presentation: We report a 7-year-old Chinese girl, who presented with epilepsy, developmental delay, neuroregression, and episodes of dyskinesia. In addition, she slipped into a coma four times after generalized tonic-clonic seizure. A trio whole exome sequencing revealed homozygous single nucleotide variants in TANGO2 gene. Eventually, after she started to have vitamin B5, the clinical signs and symptoms were significantly improved. Conclusions: A trio whole exome sequencing may help clinician to early diagnosis TANGO2 gene mutations associated disorders, and vitamin B5 supplement may be useful to it.