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10.1093/nar/gkab951 Summary Keywords glutathione synthetase deficiency, 5-oxoprolinuria, glutathione synthetase gene variation, newborn, inherited metabolic disease, case report Citation Wu X, Jiao J, Xia Y, Yan X, Liu Z, Cao Y and Ma L (2023) Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

Further clinical evidence is needed to clarify their role, optimise treatment strategies, and assess their impact on disease progression and patient outcomes

A typical stack might be 5 grams of L-Glutamine and 1 gram of L-Carnitine daily

Alternative Routes : Investigating the safety and efficacy of alternative delivery methods, such as Subcutaneous (SC) injection, which is often easier for self-administration and may cause less discomfort

Monitoring, Labs, and Outcome Tracking Baseline labs typically include serum B12, methylmalonic acid (MMA), and homocysteine

Also, Vitamin B12 injection benefits for gastrointestinal or appetite issues