Glucosephosphate isomerase deficiency type Li�ge: A new variant with congenital nonspherocytic hemolytic anemia

descriptionPublicationkeyboard_double_arrow_right Article 01 Sep 1977 English Publisher:Springer Science and Business Media LLCJournal:Blut, volume 35, pages 187-193 (issn: 0006-5242, eissn: 1432-0584,

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Authors: H, Arnold; J, Dodinval-Versie; C, Lambotte; G W, Löhr; J, van der Hofstadt;

doi: 10.1007/bf00999459

pmid: 912103

Glucosephosphate isomerase deficiency type Li�ge: A new variant with congenital nonspherocytic hemolytic anemia

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Abstract

GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band. The purification of the patient's GPI resulted in a 16000-fold enriched preparation, free of any other enzyme activity. The yield was 35%. The purified enzyme was very unstable even at low temperature. The kinetic constants of the forward and backward reaction as well as the inhibitory constants of 2,3-DPG and 6-PG do not significantly differ from normal values. The biochemical properties of the patient's GPI indicate a new variant designated type Liége.

Related Organizations

Medizinische Fakultät Mannheim
Germany

Keywords

Morocco, Erythrocytes, Hot Temperature, Polymorphism, Genetic, Belgium, Child, Preschool, Electrophoresis, Starch Gel, Humans, Female, Anemia, Hemolytic, Congenital Nonspherocytic

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