Pyruvate kinase deficiency (PKD)
Pyruvate kinase deficiency (PKD). Pyruvate kinase deficiency (PKD) is an inherited disorder that affects the red blood cells' ability to produce energy, leading to hemolytic anemia. This condition occurs due to a mutation in the PKLR gene that codes for the pyruvate kinase enzyme, which is necessary for the final step of glycolysis, a process that produces energy from glucose. Fig- piruvate kinase deficiency Sign & symptoms Fatigue Weakness Shortness of breath Pale skin Jaundice Enlarged spleen Test for PKD? Pyruvate kinase (PK) deficiency is a rare genetic condition that affects the metabolism of red blood cells, leading to hemolytic anemia. The diagnosis of PK deficiency typically involves a combination of clinical evaluation, family history, and laboratory tests. Here are some of the tests that can be used to diagnose PK deficiency: 1. Complete Blood Count (CBC): A CBC test can help to identify anemia, which is a common symptom of PK deficiency. In PK deficiency...