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Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.

Abstract
We have reported the first Tunisian case of triosephosphate isomerase (TPI) deficiency in a 2-year-old girl. She was the first child of a nonconsanguineous couple. The disease included a neonatal onset of chronic hemolytic anemia, recurrent low-respiratory infections then progressive neurological involvement. The diagnosis was made after her death from the TPI values of her parents who exhibited intermediate enzyme deficiency. Molecular study of TPI genes showed that the father and the mother are heterozygous for Glu105Asp mutation. Pediatricians must be alert to the differential diagnosis in patients having hemolytic anemia and other concomitant manifestations.
AuthorsKhaoula Aissa, Fatma Kamoun, Lamia Sfaihi, Elyes Slim Ghedira, Hajer Aloulou, Thouraya Kamoun, Serge Pissard, Mongia Hachicha
JournalFetal and pediatric pathology (Fetal Pediatr Pathol) Vol. 33 Issue 4 Pg. 234-8 (Aug 2014) ISSN: 1551-3823 [Electronic] England
PMID24840153 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Triose-Phosphate Isomerase
Topics
  • Amino Acid Substitution
  • Anemia, Hemolytic, Congenital Nonspherocytic (complications, diagnosis, genetics)
  • Carbohydrate Metabolism, Inborn Errors (complications, diagnosis, genetics)
  • Child, Preschool
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Neuromuscular Diseases (etiology)
  • Parents
  • Triose-Phosphate Isomerase (deficiency, genetics)
  • Tunisia

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