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19 Twenty-eight families with clinical symptoms of severe PGK deficiency have been described, and in 20 of these families the causative mutation is known

References Frias JP, Deenadayalan S, Erichsen L, et al

Future therapeutic strategies for Alzheimer's disease: focus on behavioral and psychological symptoms

(2009): Glutathione dysregulation and the etiology and progression of human diseases

However, symptoms are far more likely to be related to underlying conditions that cause B12 elevationsuch as liver disease, kidney dysfunction, or haematological disordersrather than the elevated B12 itself