pyruvate kinase deficiency
Pronunciation: PIE-roo-vate KI-nase
An inherited enzyme deficiency causing chronic hemolytic anemia due to impaired red blood cell energy metabolism.
Full Definition
Pyruvate kinase deficiency is the most common inherited defect of red blood cell glycolysis, caused by mutations in the PKLR gene encoding the pyruvate kinase enzyme. This autosomal recessive condition results in decreased ATP production within red blood cells, leading to membrane instability and chronic hemolytic anemia. Clinical severity varies widely, from mild compensated hemolysis to severe transfusion-dependent anemia. Children may present with jaundice, anemia, splenomegaly, and gallstones. Diagnosis is confirmed by measuring pyruvate kinase enzyme activity in red blood cells. Treatment is supportive and may include folic acid supplementation, splenectomy in selected cases, and management of complications such as iron overload.
Usage
Usage note: May be abbreviated as PK deficiency; specify deficiency to distinguish from enzyme itself.
In Context
- "Enzyme assays confirmed pyruvate kinase deficiency as the cause of the patient's chronic non-spherocytic hemolytic anemia." — Laboratory genetics report