Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Abstract excerpt

Sir, The research articles ‘Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy’ by Kevelam et al. (2013) and ‘Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome’ by Gerards et al. (2013) describe a novel disease entity of an infantile Leigh-like disorder caused by SLC19A3 mutations. In the...

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