The symptoms of TPI deficiency, a rare genetic disorder, primarily revolve around the degeneration of red blood cells.
Here's a breakdown of the common symptoms:
- Anemia: A deficiency in red blood cells or hemoglobin in the blood, leading to reduced oxygen transport.
- Fatigue: Persistent tiredness and lack of energy due to anemia.
- Pallor: An unusual paleness of the skin, indicating reduced blood flow or anemia.
- Jaundice: Yellowing of the skin and whites of the eyes, caused by a buildup of bilirubin due to red blood cell breakdown.
- Shortness of breath: Difficulty breathing, often resulting from the body's attempt to compensate for reduced oxygen levels.
TPI deficiency falls under the broader category of glycolytic enzymopathies, affecting the enzymes involved in glycolysis, a crucial process for energy production in red blood cells. Because TPI deficiency is the most severe form of glycolytic enzymopathies, it has the highest impact on red blood cells.
