triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Also known as: hemolytic anaemia due to triosephosphate isomerase deficiency, hemolytic anemia due to triosephosphate isomerase deficiency, triose phosphate-isomerase deficiency, TPI deficiency, TPID

Category: General

What is triosephosphate isomerase deficiency?

triosephosphate isomerase deficiency is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have triosephosphate isomerase deficiency, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with triosephosphate isomerase deficiency

Failure to thriveJaundiceMuscle weaknessProgressive muscle weaknessProlonged neonatal jaundiceRespiratory insufficiency due to muscle weaknessTremor

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.