[1] The acronym stands for Hyperuricemia, Pulmonary hypertension, Renal failure in infancy and Alkalosis.

[2] One in fifteen of the village's inhabitants were found to carry the genetic mutation.

[1] Those affected were born prematurely, and suffered from feeding difficulties and developmental delays.

[1] They presented with progressive kidney disease and primary pulmonary hypertension, and ultimately died.

[1] The cause of this condition is a mutation in the SARS2 gene (seryl-tRNA synthetase enzyme) which has to do with protein translation.