Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure

<b>Background</b><b>:</b> Pyruvate kinase deficiency (PKD) is the most prevalent enzymatic defect of the glycolytic pathway, causing chronic congenital non-spherocytic hemolytic anemia. Clinical severity ranges from mild anemia to transfusion-dependent diseases. Severe neonatal presentations, includ...

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Hauptverfasser:	Yung-Han Hsu, Chuen-Bin Jiang, Jen-Yin Hou, Wai-Tim Jim, Shuan-Pei Lin, Szu-Wen Chang, Kai-Ti Tseng, Ni-Chung Lee
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2025-11-01
Schriftenreihe:	Children
Schlagworte:	pyruvate kinase deficiency <i>PKLR</i> mutation neonatal liver failure hemolytic anemia conjugated hyperbilirubinemia genetic diagnosis
Online-Zugang:	https://www.mdpi.com/2227-9067/12/11/1539
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