Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies

✍ Scribed by Vives-Corrons, J. L. ;Rozman, C. ;Kahn, A. ;Carrera, A. ;Triginer, J.

• Publisher: Springer-Verlag
• Year: 1975
• Weight: 348 KB
• Volume: 29
• Category: Article
• ISSN: 0018-7348
• DOI: 10.1007/bf00394191

✦ Synopsis

A new case of glucose phosphate isomerase deficiency associated with cogenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had normal Michaelis-Menten constants both for F-6-P and G-6-P, but abnormal pH optimum and decreased heat stability at 48 degrees C. On starch-gel electrophoresis the father's enzyme was normal but the mother's showed a cathodic migrating band in addition to the normal one. The enzyme from the propositus exhibited only one band with cathodal mobility of 116% of the main band found in normal subjects. It is postulated that the propositus is double heterozygous for two abnormal alleles, and the mother contributes a mutant allele with abnormal electrophoretic mobility and thermolability at 48 degrees C whereas the father contributes an allele without enzymatic activity.