[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis]. / Le déficit en triose phosphate isomérase : une enzymopathie érythrocytaire rare et de pronostic sombre.
Ann Biol Clin (Paris)
; 81(2)2023 03 15.
Article
en Fr
| MEDLINE
| ID: mdl-36866814
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Carbohidratos
/
Anemia Hemolítica Congénita no Esferocítica
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Humans
Idioma:
Fr
Revista:
Ann Biol Clin (Paris)
Año:
2023
Tipo del documento:
Article