Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report.

ABSTRACT:

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 documen

SUBMITTER: Holme S 

PROVIDER: S-EPMC10976829 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature