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      Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report

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          Key Clinical Message

          Hemolytic anemia due to GPI deficiency can be severe and life threatening during fetal life. When parents decline invasive testing, ultrasound monitoring of fetuses at risk is feasible. Intrauterine transfusion can be effective for the treatment of severe fetal anemia due to GPI deficiency.

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          The crystal structure of human phosphoglucose isomerase at 1.6 A resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia.

          Randy J. Read, J Chirgwin, Christopher Pearce … (2001)
          Phosphoglucose isomerase (PGI) is a multifunctional protein, which, inside the cell, functions as a housekeeping enzyme of glycolysis and gluconeogenesis and, outside the cell, exerts wholly unrelated cytokine properties. We have determined the structure of human PGI to a resolution of 1.6 A using X-ray crystallography. The structure is highly similar to other PGIs, especially the architecture of the active site. Fortuitous binding of a sulphate molecule from the crystallisation solution has facilitated an accurate description of the substrate phosphate-binding site. Comparison with both native and inhibitor-bound rabbit PGI structures shows that two loops move closer to the active site upon binding inhibitor. Interestingly, the human structure most closely resembles the inhibitor-bound structure, suggesting that binding of the phosphate moiety of the substrate may trigger this conformational change. We suggest a new mechanism for catalysis that uses Glu357 as the base catalyst for the isomerase reaction rather than His388 as proposed previously. The human PGI structure has also provided a detailed framework with which to map mutations associated with non-spherocytic haemolytic anaemia. Copyright 2001 Academic Press.
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            Glucose-6-phosphate isomerase deficiency.

            W. Kugler, M. Lakomek (2000)
            Most of the metabolic needs of erythrocytes are covered by glycolysis, the oxidative pentose phosphate pathway and the glutathione cycle. Hereditary enzyme deficiencies of all these pathways have been identified, among which glucose-6-phosphate isomerase (GPI) deficiency is the second most frequent erythroenzymopathy in glycolysis, being associated with non-spherocytic haemolytic anaemia of variable severity. This autosomal recessive genetic disorder may be associated in some cases with neurological impairment. GPI is a dimeric enzyme that catalyses the reversible interconversion of fructose-6-phosphate and glucose-6-phosphate. Virtually all the mutant gene products reported are characterized by marked instability and normal substrate affinities, but altered catalytic activity and electrophoretic migration rates. At the nucleotide level, 29 mutations have been reported. This chapter reviews (a) the clinical pattern of the condition; (b) biochemical and molecular studies; (c) structure-function relationships; (d) the molecular basis of neurological dysfunctions sometimes associated with GPI deficiency; and (e) the correlation between the severity of the anaemia and the molecular defect.
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              Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.

              Y Ravindranath, D Paglia, I Warrier … (1987)
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                Author and article information

                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (publisher-id): ccr3
                Title: Clinical Case Reports
                Publisher: John Wiley & Sons, Ltd (Chichester, UK )
                ISSN (Print): 2050-0904
                ISSN (Electronic): 2050-0904
                Publication date (Print): October 2015
                Publication date (Electronic): 07 September 2015
                Volume: 3
                Issue: 10
                Pages: 862-865
                Affiliations
                [1 ]Department of Prenatal Diagnosis and Therapy, Leiden University Medical Center Leiden, the Netherlands
                [2 ]Department of Pediatric Hematology, Leiden University Medical Center Leiden, the Netherlands
                [3 ]Department of Neonatology, Leiden University Medical Center Leiden, the Netherlands
                [4 ]Department of Clinical Chemistry and Hematology, University Medical Center Utrecht Utrecht, the Netherlands
                [5 ]Department of Clinical Genetics, Leiden University Medical Center Utrecht, the Netherlands
                Author notes
                Correspondence Phebe N. Adama van Scheltema, Department of Prenatal Diagnosis and Therapy, LUMC, B3-87, PO BOX 9600, 2300 RC Leiden, the Netherlands., Tel:+31 71 5262896;, Fax: +31 71 5266741;, E-mail: p.n.adama_van_scheltema@ 123456lumc.nl

                Funding Information No sources of funding were declared for this study.

                Article
                DOI: 10.1002/ccr3.358
                PMC ID: 4614658
                PubMed ID: 26509025
                SO-VID: 1a4683b5-526b-4c76-ba66-f7f91acad899
                Copyright © © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

                History
                Date received : 23 March 2015
                Date revision received : 29 May 2015
                Date accepted : 25 July 2015
                Categories
                Subject: Case Reports

                Keywords: fetal anemia,gpi deficiency,intrauterine transfusion
                Data availability:
                Keywords: fetal anemia, gpi deficiency, intrauterine transfusion

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