Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report.
The clinical course and the biochemical findings are reported from a patient suffering from glucosephosphate isomerase (G.P.I EC 5.3.1.9) deficiency type Nijmegen. This disorder decleares itself as a non-spherocytic hemolytic anemia, presenting in the neonatal period. In the patient hemolysis was of the same degree during the years. However, trivial infections could often trigger an increase in hemolysis requiring treatment by blood transfusions. Enzyme studies revealed that the GPI deficiency in this patient was caused by a double heterozygous state for two different GPI deficient alleles. The presence of one of these deficient alleles in the proband's parents and grandparents, was not accompanied by any sign of hemolysis, as for instance a shortened red-cell survival.
D000483:Alleles; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D005260:Female; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007239:Infections / Q000150:complications; D009426:Netherlands; D010375:Pedigree