John Libbey Eurotext

Annales de Biologie Clinique


Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis Ahead of print


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1 Service d’hématologie biologique, CHRU Nancy, F-54511 Vandœuvre-lès-Nancy
2 Service de médecine infantile, CHRU Nancy, F-54511 Vandœuvre-lès-Nancy, France
3 Service d’hématologie oncologique pédiatrique, CHRU Nancy, F-54511 Vandœuvre-lès-Nancy, France
* Correspondance : J. Perrin

Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.