Article
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
American journal of human genetics - 11 Feb 2011
Belostotsky Ruth, Ben-Shalom Efrat, Rinat Choni, Becker-Cohen Rachel, Feinstein Sofia, Zeligson Sharon, Segel Reeval, Elpeleg Orly, Nassar Suheir, Frishberg Yaacov
Abstract excerpt
An uncharacterized multisystemic mitochondrial cytopathy was diagnosed in two infants from consanguineous Palestinian kindred living in a single village. The most significant clinical findings were tubulopathy (hyperuricemia, metabolic alkalosis), pulmonary hypertension, and progressive renal failure in infancy (HUPRA syndrome). Analysis of the consanguineous pedigree suggested that the causative mutation is in...
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