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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)

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One study [41] also reported high levels of urinary sulfite in children with autism, suggesting that there was a problem of converting sulfite to sulfate in the mitochondria