[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].
Fiche publication
Date publication
mars 2023
Journal
Annales de biologie clinique
Auteurs
Membres identifiés du Cancéropôle Est :
Dr FOUYSSAC Fanny, Dr LESESVE Jean-François
Tous les auteurs :
Julien M, Todosi C, Fouyssac F, Lesesve JF, Gérard D, Perrin J
Lien Pubmed
Résumé
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.
Mots clés
enzymopathy., hemolytic anemia, neurological disorders, triose phosphate isomerase
Référence
Ann Biol Clin (Paris). 2023 03 3;81(2):