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- Title
Le déficit en triose phosphate isomérase : une enzymopathie érythrocytaire rare et de pronostic sombre.
- Authors
Julien, Mélissa; Todosi, Calina; Fouyssac, Fanny; Lesesve, Jean-François; Gérard, Delphine; Perrin, Julien
- Abstract
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.
- Publication
Annales de Biologie Clinique, 2023, Vol 81, Issue 2, p198
- ISSN
0003-3898
- Publication type
Article
- DOI
10.1684/abc.2023.1789