Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.
A 16-month-old girl of Spanish origin with chronic hemolytic anemia and severe neuromuscular disease was found to have markedly reduced triosephosphate isomerase (TPI) activity in her erythrocytes, leukocytes, and plateletes. Both parents and some other family members had moderately reduced erythrocyte TPI activity in accordance with the autosomal recessive mode of inheritance in this enzymopathy. Latex ingestion and latex-stimulated histochemical NBT reduction by the patient's granulocytes were normal. Zymosan-stimulated superoxide radical (O-.2) formation, not previously studied in TPI-deficient granulocytes, was also within normal limits. Starchgel electrophoresis of TPI in both erythrocytes and leukocytes of the proposita and her parents was normal. Molecular studies of deficient TPI showed a normal kinetic pattern with markedly reduced heat instability. Immunologic studies demonstrated no cross reacting material in proposita leukocytes and a normal molecular specific activity. These studies suggest that molecular instability might cause both enzymatic and antigenic degradation of the TPI molecule and, therefore, TPI deficiency in our patient.
D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000235:genetics*; D001792:Blood Platelets / Q000201:enzymology; D002238:Carbohydrate Epimerases / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013030:Spain; D014305:Triose-Phosphate Isomerase / Q000172:deficiency* / Q000378:metabolism
D002238:Carbohydrate Epimerases; D014305:Triose-Phosphate Isomerase