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.
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August Roesel, R., Hommes, F.A. & Samper, L. Pyroglutamic aciduria (5-Oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity. J Inherit Metab Dis 4, 89–90 (1981). https://doi.org/10.1007/BF02263605
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DOI: https://doi.org/10.1007/BF02263605