The main clinical features are haemolytic anaemia, jaundice, progressive neuromuscular dysfunction, respiratory problems, and increased susceptibility to infection resulting in severe disease and death in early childhood. The symptoms depend on the type of the mutation (see molecular characteristics). In patients with haemolysis and neuromotor retardation, TPI deficiency must be considered. In severe cases the child cannot walk, sit and keep his head independently. In milder cases the typical symptom is the haemolytic anaemia.
TPI1