Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1977 Sep 29;35(3):187-93.
doi: 10.1007/BF00999459.

Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia

H Arnold, J Dodinval-Versie, C Lambotte, G W Löhr, J van der Hofstadt
Case Reports

Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia

H Arnold et al. Blut. .

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.

PubMed Disclaimer

References

    1. Humangenetik. 1975 Oct 20;30(1):35-40 - PubMed
    1. Klin Wochenschr. 1973 Dec 15;51(24):1198-204 - PubMed
    1. J Pediatr. 1974 Oct;85(4):494-7 - PubMed
    1. Blut. 1973 Jun;26(6):393-8 - PubMed
    1. Blood. 1973 May;41(5):691-9 - PubMed

Publication types