Genetic Variability of HUPRA Syndrome—A Case Report

HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by mutation in the SARS2 gene encoding seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present case report of boy aged 1 year 2 months with premature anemia, alkalosis diagnosed syndrome. This disease known to be progressive fatal. A genetic test revealed new previously undescribed heterozygous nucleotide variant exons 14 gene. The substitution c.1295G > (p.Arg432His) was detected exon 14; according criteria American College Medical Genetics (ACMG), this missense probably pathogenic. c.227T C (p.Leu76Pro) 1; ACMG criteria, unclear significance. suggest that substitutions patient typical clinical presentation should considered as pathogenic mutation.