HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 encoding the mitochondrial seryl-tRNA synthetase, cause HUPRA syndrome.
Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y
タイトル
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
