What question did this study set out to answer?

To report a case of severe neonatal pyruvate kinase deficiency presenting with liver failure and hemolytic anemia.

November 14, 2025ChildrenOpen Access

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

View Full Paper

Ask AI

Bookmark

To report a case of severe neonatal pyruvate kinase deficiency presenting with liver failure and hemolytic anemia.
Case presentation of a preterm female neonate
Whole-genome sequencing to identify mutations in the PKLR gene
Imaging studies to assess liver involvement.
Developed severe hemolytic anemia, conjugated hyperbilirubinemia, and liver dysfunction
Required continuous transfusion support due to anemia
Highlight importance of recognizing hepatic involvement in PKD.

No takes yet. Share an insight, caveat, or question.

Case report shows liver dysfunction in neonate with pyruvate kinase deficiency and hemolytic anemia, indicating need for timely management.

HSU et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark

Case report shows liver dysfunction in neonate with pyruvate kinase deficiency and hemolytic anemia, indicating need for timely management.