Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.
case_report · Level V
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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.
Medical subject headings
- Metabolism, Inborn Errors
- Pyruvate Kinase