[Deficiency of triosephosphate isomerase. Apropos of 2 new cases].
Two siblings, born of a no consanguineous couple, a female and a male, affected by a severe and progressive neurological disease and chronic hemolytic anemia are presented. Their clinical, hematological, biochemical and pathological studies are discussed. One of the patients showed a triosephosphate isomerase deficiency and the carrier condition of their parents was tested. Commentaries about physiopathology of this disease are made.
D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D002675:Child, Preschool; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009422:Nervous System Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D012141:Respiratory Tract Infections / Q000209:etiology; D014305:Triose-Phosphate Isomerase / Q000172:deficiency*
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase
Déficit de triosa fosfato isomerasa. A propósito de dos nuevas observaciones.