However, except for the rare enzymopathies whose causative genes have an ubiquitous expression leading to non-hematological signs (myopathy and neuromuscular abnormalities in triosephosphate isomerase (TPI) or phosphoglycerate kinase (PGK) deficiency), the clinical picture of these diseases is similar to the other congenital hemolytic anemias, making in some cases differential diagnosis tricking with possible misdiagnosis. The gene discussed is TPI1; the disease is Congenital hemolytic anemia.