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Phosphoglycerate kinase (PGK) deficiency is an extremely rare X-linked recessive genetic disorder with a wide range of phenotypes, which typically present as either a syndrome of moderate to severe hemolytic anemia accompanied by nervous system manifestations, or a mostly myopathic syndrome.[1,2] Here, we reported a novel PGK1 missense variant from a patient with atypical presentations of PGK deficiency, including mild hemolytic anemia, global developmental delay, and seizures, without apparent myopathies.