Pyruvate Kinase Deficiency Clinical Presentation

Updated: Feb 23, 2022
  • Author: Hassan M Yaish, MD; Chief Editor: George T Griffing, MD  more...
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History and Physical Examination

The birth history of patients with pyruvate kinase deficiency includes severe anemia, severe jaundice, [8] kernicterus, and a history of exchange transfusion. The patient’s family history will be consistent with autosomal recessive inheritance. Patients may become symptomatic during times of physiologic stress, including during acute illness (particularly viral disorders) and pregnancy.

The following are evident in pyruvate kinase deficiency:

  • Mild to severe anemia

  • Symmetrical growth delay

  • Failure to thrive

  • Cholecystolithiasis: Usually after the first decade of life but possibly in childhood

  • Frontal bossing

  • Icteric sclera

  • Mild to moderate splenomegaly

  • Upper-right-quadrant tenderness

  • Murphy sign

  • Chronic leg ulcers