PDHA1 and hyperinsulinemic hypoglycemia, familial, 4: On ES we previously found a known pathogenic PDHA1 (chrXp22.12) c.1246C>T, p.Arg416Cys variant responsible for X‐linked Pyruvate Dehydrogenase E1‐alpha deficiency that had been previously published with functional data.[5, 70] The family history of case 8 is unknown.