Inherited glutathione synthetase deficiency

MONDO:0017909

Glutathione synthetase deficiency is characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.

Also known as: 5-oxoprolinuria, GSSD, glutathione synthetase deficiency, inborn error of glutathione synthase activity, inborn glutathione synthase activity disorder, inherited glutathione synthetase deficiency, pyroglutamic aciduria, pyroglutamicaciduria

3 clinical trials for this condition and its sub-types.

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Sub-types

Glutathione synthetase deficiency with 5-oxoprolinuria (1) Glutathione synthetase deficiency without 5-oxoprolinuria (0)

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) Phagocytic cell dysfunction (1) Defective phagocytic cell engulfment (0)

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

Inherited glutathione synthetase deficiency

Sub-types

Broader categories

Newborn screening study aims to catch rare diseases at birth