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Pyruvate Kinase Deficiency(PKD) is a rare inherited blood disorder caused by a deficiency of the pyruvate kinase enzyme, which is essential for energy production in red blood cells. Without sufficient enzyme activity, red blood cells cannot generate adequate energy, making them fragile and prone to premature destruction. This leads to chronic haemolytic anaemia of varying severity. The condition is inherited in an autosomal recessive pattern, meaning both parents must pass on a faulty gene for a child to be affected.

Symptoms may appear at birth or later in life and can include fatigue, pale skin, jaundice, shortness of breath, dark urine, enlarged spleen, and delayed growth in children. Some individuals also develop gallstones due to increased breakdown of red blood cells. The severity of symptoms differs widely among affected individuals.

Diagnosis involves a complete blood count, reticulocyte count, blood smear, enzyme activity testing, and genetic analysis to confirm mutations in the PKLR gene. Early diagnosis helps guide appropriate treatment and long-term care.

Management focuses on reducing symptoms and preventing complications. Treatment may include folic acid supplementation, blood transfusions for severe anaemia, splenectomy in selected cases, and newer targeted therapies where appropriate. Regular monitoring and supportive care help improve quality of life and reduce disease-related complications.