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 What is pyroglutamic acid (5oxoproline)? 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 Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis A Case Report and Review of Literature Cureus
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