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The SUCLA2 gene is located on chromosome 13 (13q14.2). Biallelic mutations in this gene cause a deficiency of the enzyme succinyl-CoA synthase in the Krebs cycle. The reaction catalysed by the enzyme also represents a distal step of the methylmalonic acid pathway. The SUCLA2 defect is an inborn error of metabolism (MIM #612073). The defect leads to an early infantile Leigh-like encephalo­pathy and a mitochondrial depletion syndrome with dystonia and deafness. Patients with the SUCLA2 defect have been reported from various parts of the world. Inheritance is autoso­mal recessive.