glutathione synthetase deficiency oxoproline Pyroglutamic Acidosis • LITFL • CCC Acid-base Mutations in the glutathione synthetase

Mutations in the glutathione synthetase gene cause 5oxoprolinuria Nature Genetics Frontiers Glutathione: A Samsonian life sustaining small molecule that protects against oxidative stress, ageing and damaging inflammation Acetaminophen Toxicity and 5 Oxoproline (Pyroglutamic Acid): A Tale of Two Cycles, One an ATP Depleting Futile Cycle and the Other a Useful Cycle PMC Frontiers Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

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