ArticleFrontiers in physiology2019
Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.
Article in Frontiers in physiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 42 citations in OpenAlex.
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Underlying disease is the main risk factor in post-splenectomy complication risk: Data from a national database.British journal of haematology · 2025Article
- Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.Cureus · 2025Article
- Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.Current medical science · 2024Article
- Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.Journal of medical case reports · 2024Article
- Glucose-6-phosphate isomerase deficiency hemolysis.Quantitative imaging in medicine and surgery · 2023Article
- The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis.BMC medical genomics · 2023Article
- Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report.BMC pediatrics · 2022Article
- Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report.International journal of hematology · 2022Article
- Case report: Glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head.Frontiers in pediatrics · 2022Article
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.Orphanet journal of rare diseases · 2021Review
- Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.Frontiers in physiology · 2021Article
- Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.Frontiers in genetics · 2021Article
- Congenital Hemolytic Anemias: Is There a Role for the Immune System?Frontiers in immunology · 2020Review
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12 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Glucose-6-phosphate isomerase (GPI, EC 5.3.1.9) is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second reaction step of glycolysis. GPI deficiency, transmitted as an autosomal recessive trait, is considered the second most common erythro-enzymopathy of anaerobic glycolysis, after pyruvate kinase deficiency. Despite this, this defect may sometimes be misdiagnosed and only about 60 cases of GPI deficiency have been reported. GPI deficient patients are affected by chronic non-spherocytic hemolytic anemia of variable severity; in rare cases, intellectual disability or neuromuscular symptoms have also been reported. The gene locus encoding GPI is located on chromosome 19q13.1 and contains 18 exons. So far, about 40 causative mutations have been identified. We report the clinical, hematological and molecular characteristics of 12 GPI deficient cases (eight males, four females) from 11 families, with a median age at admission of 13 years (ranging from 1 to 51); eight of them were of Italian origin. Patients displayed moderate to severe anemia, that improves with aging. Splenectomy does not always result in the amelioration of anemia but may be considered in transfusion-dependent patients to reduce transfusion intervals. None of the patients described here displayed neurological impairment attributable to the enzyme defect. We identified 13 different mutations in the
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