HUPRA syndrome

Definition:

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.

References:

[1]. Ruth Belostotsky, et al. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet. 2011 Feb 11;88(2):193-200. [Content Brief]

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