Pyroglutamic aciduria (5‐Oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity

Abstract

Abstract A woman with 5‐oxoprolinuria, probably due to a deficiency of pyroglutamate hydrolase, is described. This patients has produced three babies with severe congenital heart disease, the surviving one having a marked hyperprolinaemia.