Pyruvate kinase deficiency

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Pyruvate kinase deficiency

Pathophysiology:
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Autosomal recessive defect of pyruvate kinase

Etiology:
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Glucose is the only energy source for RBCs. In glycolysis, pyruvate kinase converts phosphoenolpyruvate into pyruvate irreversibly. This step is required in the degradation of glucose into pyruvate to generate ATP (via the Embden-Meyerhof pathway, the major anaerobic glycolytic pathway). In the absence of pyruvate kinase, RBCs are deficient in ATP. This deficiency leads to a disturbed cation gradient among the RBC membrane, resulting in hemolysis.

Clinical symptoms:
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In contrast to G6PD deficiency, the majority of patients with pyruvate kinase deficiency display clinical symptoms.
Splenomegaly
Icterus
Pallor, fatigue, weakness
In rare cases: lethal hydrops details

Diagnosis
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Signs of hemolysis
Measure pyruvate kinase enzyme activity
Detection of pyruvate kinase, liver, and red blood cells (PKLR) gene mutation

Therapy
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Phototherapy and/or exchange transfusions
In case of severe anemia or excessively enlarged spleen: splenectomy

#pyruvatekinasedeficiency #PKD #hemolyticanemia