To‐date only 38 disease causing mutations have been associated with SLC19A3 gene causing features such as early‐infantile encephalopathy, Basal ganglia disease, Leigh syndrome, Wernicke's‐like encephalopathy, and alcohol dependence.3 These mutations include 21 missense, 3 nonsense, 1‐splice site, 4 small deletions, 4 small insertions, and 5 gross deletions (Table 1; Fig. 1). The gene discussed is SLC19A3; the disease is Leigh syndrome.