[Triosephosphate isomerase deficiency. Familial survey and prenatal detection].
Triose phosphate isomerase catalyses dihydroxyacetone phosphate to glyceraldehyde 3 phosphate isomerism. Its deficiency associates hemolytic anemia, neurologic abnormalities, relapsing infections and results in encephalopathy or early death. On the occasion of 2 new cases, we report one of the most important familial surveys as 93 subjects were studied, confirming the autosomal recessive transmission of the deficiency and the first results of antenatal diagnosis which could be performed in one of the families.
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase
Le déficit en triose phosphate isomérase. Enquête familiale et dépistage anténatal.