Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn.
The deficient red cell enzyme glucosephosphate isomerase (GPI) was characterized in a patient of German origin who had already been described, with congenital nonspherocytic hemolytic anemia, and in his heterozygous parents. The variant enzyme differs from the known GPI variant enzyme differs from the known GPI variants by the electrophoretic mobility, the thermal stability, and the leukocyte activity. No differences are found between normal GPI and the variant regarding the affinity to fructose-6-phosphate, the pH optimum and the thermal optimum. Since the electrophoretic pattern and the properties of the parenteral GPI are identical the propositus seems to be homozygous for an abnormal allele and not double-heterozygous as some other cases with GPI deficiency are. Recently, immunological studies have shown that the variant differs from other similar variants. According to the birthplace of the patient the variant is called "Paderborn".
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D055598:Chemical Phenomena; D002627:Chemistry, Physical; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005860:Germany, West; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male