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Article

Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.

The Journal of pediatrics - 1 Apr 2007

Pissard Serge, de Montalembert Mariane, Bachir Dora, Max-Audit Isabelle, Goossens Michel, Wajcman Henri, Bader-Meunier Brigitte

Abstract excerpt

Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes life-threatening. We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth.

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Share to Anemia
Share to Genetic Testing
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Neonatal Screening

Share to Polymorphism, Restriction Fragment Length

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Source

Identifiers

PMID: 17382129
DOI: 10.1016/j.jpeds.2007.01.039

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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