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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.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Immune system disorder (148) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Mineral metabolism disease (2) Inherited glutathione synthetase deficiency (1) Phagocytic cell dysfunction (1)

Trials to join now! 2 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