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These markers can reflect how the body processes food, generates cellular energy via adenosine triphosphate (ATP) production, responds to oxidative stress, and interacts with gut microbes including Clostridia, Candida, and Aspergillus species

However, in glutathione synthetase deficiency, because the activity of gamma-glutamyl-cysteine synthetase is regulated via feedback inhibition by glutathione, gamma-glutamyl-cysteine and then L-5-oxoproline are overproduced, resulting in the metabolic acidosis and urinary excretion of this compound at levels several hundred-fold above normal (71

Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Tella SH, Fernandez de Castro L, Gafni RI, Wolf M, Juppner H, Gales B, Wesseling-Perry K, Markovich D, Gahl WA, Salusky IB, Collins MT (2020) Nephropathic cystinosis: a distinct form of CKD-mineral and bone disorder that provides novel insights into the regulation of FGF23

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