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Article

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.

Journal of medical case reports - 27 Jul 2021

Sivashangar Ahalyaa, Gooneratne Lallindra, Clark Barnaby, Rees David, Jayasinghe Saroj, Laas Claire

Abstract excerpt

BACKGROUND: Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in which...

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Identifiers

PMID: 34311792
DOI: 10.1186/s13256-021-02972-6
PMCID: PMC8314513

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.PMID 34311792Read ↗

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