Elijah Raphael Behr

Investigating the Distinctive Clinical and Genetic Landscape of PPA2 Deficiency

BACKGROUND: PPA2 encodes for inorganic pyrophosphatase 2, a mitochondrial enzyme that hydrolyzes inorganic pyrophosphates into orthophosphate. Biallelic loss-of-function variants cause PPA2 deficiency, an emerging recessive cardiac condition that causes heart failure and sudden c...