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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C5Y Other specified inborn errors of metabolism
H02441 HUPRA syndrome
Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y
Title
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
