Hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease with a prevalence of <1:1 000 000, due to variations in the seryl-tRNA synthetase (SARS2) gene encoding SARS on <i>chromosome 19 (19q13.2)</i>. Here, SARS2 is linked to mitochondrial disease.