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

## TL;DR

A preterm neonate with pyruvate kinase deficiency developed severe anemia and liver failure, highlighting the need for early genetic diagnosis and management.

## Contribution

This case reports a rare neonatal presentation of PKD with severe liver dysfunction and emphasizes the importance of recognizing hepatic involvement.

## Key findings

- The neonate exhibited early-onset hemolytic anemia, hyperbilirubinemia, and progressive liver dysfunction.
- Compound heterozygous mutations in the PKLR gene were identified through whole-genome sequencing.
- Hepatic involvement in PKD can lead to significant morbidity and may require interventions like liver transplantation.

## Abstract

Background: 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, including liver failure, have rarely been reported. Case presentation: We report a preterm female neonate with PKD who developed early-onset hemolytic anemia, conjugated hyperbilirubinemia, hepatosplenomegaly, coagulopathy, and progressive transaminitis. Imaging demonstrated hepatomegaly with diffuse parenchymal involvement. Whole-genome sequencing identified compound heterozygous pathogenic mutations in the PKLR gene, confirming the diagnosis of PKD. The patient required continuous transfusion support and was discharged following clinical stabilization. Discussion: Although PKD most often manifests as isolated hemolytic anemia, this case illustrates a rare neonatal phenotype with concurrent liver dysfunction. We investigated the potential underlying mechanism. Recognition of hepatic involvement in PKD is essential because liver failure is associated with considerable morbidity and mortality, and it may necessitate interventions such as liver transplantation. Conclusions: This case highlights the importance of considering PKD in neonates presenting with hemolysis and liver failure. Early genetic confirmation enables timely management, including transfusion support, iron overload surveillance, and anticipatory guidance for potential hepatic complications.