TY - JOUR

T1 - Glucose phosphate isomerase deficiency demasked by whole-genome sequencing

T2 - a case report

AU - Holme, Sissel

AU - van Wijk, Richard

AU - Rasmussen, Andreas Ørslev

AU - Petersen, Jesper

AU - Glenthøj, Andreas

N1 - Publisher Copyright: © The Author(s) 2024.

PY - 2024

Y1 - 2024

N2 - Background: Glucose-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. Conclusions: Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.

AB - Background: Glucose-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. Conclusions: Whole-genome sequencing stands as a potent tool for identifying hereditary anemias, ensuring optimal management strategies.

KW - Glucose-6-phosphate isomerase

KW - Glycolysis

KW - Hemolytic anemia

KW - Hereditary anemia

KW - RBC enzymes

U2 - 10.1186/s13256-024-04466-7

DO - 10.1186/s13256-024-04466-7

M3 - Journal article

C2 - 38539245

AN - SCOPUS:85188816590

VL - 18

JO - Journal of Medical Case Reports

JF - Journal of Medical Case Reports

SN - 1752-1947

IS - 1

M1 - 130

ER -