ArticleJournal of medical case reports2024
Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.
Article in Journal of medical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 2 citations in OpenAlex.
- Integrative Long-Read Multi-Omics of a Patient With GPI Deficiency: A Molecular Case Study of a Candidate Dual-Effect GPI Variant.Journal of cellular and molecular medicine · 2026Article
- A Complex Case of Glucose-Phosphate Isomerase Deficiency With an Indeterminate Adrenal Incidentaloma.Cureus · 2026Article
- Uncovering Glucose-6-Phosphate Isomerase (GPI) Deficiency in a Five-Year-Old With Hemolytic Anemia in Bahrain.Cureus · 2025Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGlucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells. About 90 cases are reported worldwide, with symptoms including chronic hemolytic anemia, jaundice, splenomegaly, gallstones, cholecystitis, and in severe cases, neurological impairments, hydrops fetalis, and neonatal death. CASE PRESENTATION: This paper details the case of the first Danish patient diagnosed with glucose-6-phosphate isomerase deficiency. The patient, a 27-year-old white female, suffered from lifelong anemia of unknown origin for decades. Diagnosis was established through whole-genome sequencing, which identified two GPI missense variants: the previously documented variant p.(Thr224Met) and a newly discovered variant p.(Tyr341Cys). The pathogenicity of these variants was verified enzymatically.
conclusionsWhole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.
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