Pyruvate Kinase Deficiency

Pyruvate kinase deficiency is a rare inherited disorder that affects red blood cells, which break down prematurely because of a failure in energy production within them, leading to anemia.

Common symptoms: paleness, tiredness, yellowish coloring of the skin and eyes, and in some cases an increase in the size of the spleen.

Common causes: it is due to a genetic alteration that reduces the activity of a red blood cell enzyme and is usually detected in childhood.

Which specialist treats it? The pediatrician is key to identifying the anemia and directing the workup together with specialists in blood diseases. In the presence of persistent paleness and yellowish coloring of the skin in a child, it is advisable to seek an evaluation promptly.