[A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].
Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.
D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D009468:Neuromuscular Diseases / Q000209:etiology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase
Un cas d'anémie hémolytique congénitale non sphérocytaire, par déficit en triose phosphate isomérase. Diagnostic prénatal.