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Glutathione synthetase deficiency with 5-oxoprolinuria

MONDO:0009947

Also known as: 5-oxoprolinuria, GSSD, glutathione synthetase deficiency, pyroglutamic aciduria

3 clinical trials for this condition and its sub-types, 1 tagged with Glutathione synthetase deficiency with 5-oxoprolinuria itself.

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Where it sits in the disease tree

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Part of

↑ Inherited glutathione synthetase deficiency (1)

Including sub-types (3) Tagged with Glutathione synthetase deficiency with 5-oxoprolinuria (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC