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2023
- ISIDORE Id: 10670/1.3bd78a...
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Deficiency ShortagesCiter ce document
Mélissa Julien et al., « Triosephosphate isomerase deficiency: A rare erythrocyte enzymopathy with a poor prognosis », Annales de Biologie Clinique, ID : 10670/1.3bd78a...
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Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional due to its rarity (fewer than 100 cases described worldwide), and also due to its extreme severity. It is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and, in particular, a progressive neurological degeneration that leads to death in early childhood for the majority of cases. We report in our observation the story of the diagnosis and clinical course of monozygotic twins born at 32 weeks with triosephosphate isomerase deficiency.
