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Article

Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency.

Annals of hematology - 12 May 2026

Sakalian Oliver, Huguenin Yoann, Pissard Serge, Augis Vanessa, Weinmann Laurent, Fuster Valérie, Lagarde Marie, Badour Elise, Aladjidi Nathalie, Boutin Julian, Dulucq Stéphanie

Abstract excerpt

Diagnosing neonatal pyruvate kinase (PK) deficiency is challenging, especially when early transfusions render conventional testing inconclusive. Genetic testing, however, is not influenced by transfusions and can provide, in most cases, a definitive diagnosis. We report two unrelated infants with symptomatic PK deficiency, both compound heterozygous for PKLR mutations, including two undescribed missense variants...

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Share to Anemia, Hemolytic, Congenital Nonspherocytic
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Pyruvate Kinase

Source

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Identifiers

PMID: 42115487
DOI: 10.1007/s00277-026-07018-9
PMCID: PMC13333555

Genes

PKLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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