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Neurochem Int 55:136

The disease is caused by compound heterozygous or homozygous loss of function mutations in the PKLR gene encoding for liver and red blood cell specific pyruvate kinase (PK-R

Vitamin C is a potent water-soluble antioxidant

The persistent accumulation of ROSarising from endogenous sources (e.g., mitochondrial leakage, enzymatic reactions) and exogenous insults (e.g., ultraviolet radiation, pollutants, tobacco)can overwhelm the antioxidant defense threshold, triggering widespread oxidative damage targeting proteins, lipids, and nucleic acids