Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.

Abstract excerpt

The gold standard for the diagnosis of pyruvate kinase (PK) deficiency, the most frequent red blood cell enzymopathy, is an enzymatic activity assay. However, this assay is rather unreliable in a clinical setting, often leading to misdiagnosis or missed diagnosis. This report presented the cases of two patients diagnosed with PK deficiency using molecular genetic testing, even though conventional laboratory...

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