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Oxidation of the tryptophan 32 residue of human superoxide dismutase 1 caused by its bicarbonate-dependent peroxidase activity triggers the non-amyloid aggregation of the enzyme

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Clinical presenting features of the condition include those relating to anaemia (e.g., pallor, weakness, and fatigue), gastro-intestinal symptoms (e.g., epigastric pain and glossitis), neurological symptoms (e.g., from numbness of extremities and impaired proprioception in subacute combined degeneration of the spinal cord to severe developmental delay, epilepsy, and coma in inherited intracellular cobalamin defects), psychiatric disturbances and neural tube defects in the newborn of a deficient mother (Molloy et al., 2009)