Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Anemia / etiology
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Female
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Genetic Testing / methods
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Humans
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Infant
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Infant, Newborn
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Male
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Metabolism, Inborn Errors / complications
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / genetics
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Metabolism, Inborn Errors / therapy
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Mutation / genetics
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Neonatal Screening / methods
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Polymorphism, Restriction Fragment Length
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Pyruvate Kinase / deficiency*
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Treatment Outcome