A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO)

A new case of glucosephosphate isomerase deficiency with mild haemolytic anaemia was observed in a 6-year-old girl. Deficient enzyme was characterized by a profoundly decreased activity in the red cells, a normal electrophoretic phenotype, normal isoelectric point, normal optimum pH, a molecular instability and a clearly decreased Michaelis constant for fructose-6-phosphate. Propositus was double heterozygote for a 'silent gene' inherited from the mother and an abnormal enzyme from the father. Because this abnormal enzyme has undescribed characteristics, it responds to a new variant for which we propose the name GPI-MYTHO.