Triosephosphate Isomerase Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction.

**Synonyms:** - TP1 Deficiency - Triosephosphate-Isomerase Deficiency