Summary
Triose-phosphate isomerase (TPI) deficiency is a severe multisystemic disease with autosomal recessive inheritance. It is mainly characterized by early-onset chronic hemolytic anemia, always present, and progressive neurological involvement that starts between 6 and 30 months of age. Other clinical signs can be observed, in particular, diaphragm paralysis that requires assisted ventilation, cardiomyopathy and an increased susceptibility to infections. The incidence is not known and only 30 or so cases have been described in the world. The TPI gene is located on chromosome 12, diverse mutations have been identified. Prenatal diagnosis can be obtained by enzymatic assay and/or molecular biology. *Author: Dr. M.-O. Livet (September 2003)*
