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Case Reports
. 2025 Nov 14;12(11):1539.
doi: 10.3390/children12111539.

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

Yung-Han Hsu  1 , Chuen-Bin Jiang  2   3 , Jen-Yin Hou  4 , Wai-Tim Jim  5 , Shuan-Pei Lin  3   6 , Szu-Wen Chang  2 , Kai-Ti Tseng  7 , Ni-Chung Lee  8
Affiliations
Case Reports

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

Yung-Han Hsu et al. Children (Basel). .

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.

Keywords: PKLR mutation; conjugated hyperbilirubinemia; genetic diagnosis; hemolytic anemia; hepatic involvement; iron overload; neonatal liver failure; pyruvate kinase deficiency.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Abdominal CT demonstrated hepatomegaly and infiltrative hypodense lesions in the liver, visible both with and without contrast.
Figure 2
Figure 2
(a) Abdominal MRI with Primovist in T1- and T2-weighted sequences demonstrated suspicious diffuse fatty infiltration of the liver, with relative sparing of segment 5 (S5); (b) in-phase imaging demonstrated a signal drop in the hepatic angle (arrow).
Figure 3
Figure 3
A blood smear demonstrated numerous normoblasts with marked severe anisocytosis and poikilocytosis.
See this image and copyright information in PMC

References

    1. Canu G., De Bonis M., Minucci A., Capoluongo E. Red blood cell PK deficiency: An update of PK-LR gene mutation database. Blood Cells Mol. Dis. 2016;57:100–109. doi: 10.1016/j.bcmd.2015.12.009. - DOI - PubMed
    1. Rets A., Clayton A.L., Christensen R.D., Agarwal A.M. Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. Int. J. Lab. Hematol. 2019;41((Suppl. 1)):95–101. doi: 10.1111/ijlh.13014. - DOI - PubMed
    1. Al-Samkari H., Shehata N., Lang-Robertson K., Bianchi P., Glenthøj A., Sheth S., Neufeld E.J., Rees D.C., Chonat S., Kuo K.H.M., et al. Diagnosis and management of pyruvate kinase deficiency: International expert guidelines. Lancet Haematol. 2024;11:e228–e239. doi: 10.1016/S2352-3026(23)00377-0. - DOI - PubMed
    1. Hou J.Y., Yeh T.C., Huang T.H., Lin P.C., Liu H.C., Chang J.G. A novel mutation of PKLR gene in a Taiwanese neonate initially presented with severe hemolytic anemia. Pediatr. Neonatol. 2020;61:647–649. doi: 10.1016/j.pedneo.2020.08.007. - DOI - PubMed
    1. Raphaël M.F., Van Wijk R., Schweizer J.J., Schouten-van Meeteren N.A., Kindermann A., van Solinge W.W., Smiers F.J. Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn. Am. J. Hematol. 2007;82:1025–1028. doi: 10.1002/ajh.20942. - DOI - PubMed

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