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A New Variant of Glucosephosphate Isomerase Deficiency with Mild Haemolytic Anaemia (GPI‐MYTHO)
Author(s) -
Galand C.,
Torres M.,
Boivin P.,
Bourgeaud J. P.
Publication year - 1978
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1978.tb01557.x
Subject(s) - heterozygote advantage , enzyme , enzyme deficiency , isoelectric focusing , biology , gene , chemistry , genetics , biochemistry , allele
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.