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Inborn disorder of the gamma-glutamyl cycle

MONDO:0019241

Also known as: disorder of gamma-glutamyl cycle, disorder of the gamma-glutamyl cycle

1 clinical trial for this condition and its sub-types, 0 tagged with Inborn disorder of the gamma-glutamyl cycle itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of amino acid and other organic acid metabolism (225)

Sub-types of Inborn disorder of the gamma-glutamyl cycle

Inherited glutathione metabolism disease 0 trials · 1 incl. sub-types
6 sub-types
- Inherited glutathione synthetase deficiency 1 trial Sub-types →
- 5-oxoprolinase deficiency 0 trials
- Gamma-glutamyl transpeptidase deficiency 0 trials
- Gamma-glutamylcysteine synthetase deficiency 0 trials
- Hemolytic anemia due to glutathione reductase deficiency 0 trials
- Spondylometaphyseal dysplasia, Sedaghatian type 0 trials

Most studied deeper sub-types

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

Including sub-types (1) Tagged with Inborn disorder of the gamma-glutamyl cycle (0)

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