{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T12:23:32Z","timestamp":1763123012639,"version":"3.45.0"},"reference-count":17,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/children12111539","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T11:49:43Z","timestamp":1763120983000},"page":"1539","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure"],"prefix":"10.3390","volume":"12","author":[{"given":"Yung-Han","family":"Hsu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hsinchu Municipal MacKay Children\u2019s Hospital, Hsinchu City 300046, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2763-3476","authenticated-orcid":false,"given":"Chuen-Bin","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, MacKay Children\u2019s Hospital, Taipei City 104217, Taiwan"},{"name":"Department of Medicine, MacKay Medical College, MacKay Medical University, New Taipei City 252005, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jen-Yin","family":"Hou","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology-Oncology, MacKay Children\u2019s Hospital, Taipei City 104217, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai-Tim","family":"Jim","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics, MacKay Children\u2019s Hospital, Taipei City 104217, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medicine, MacKay Medical College, MacKay Medical University, New Taipei City 252005, Taiwan"},{"name":"Department of Pediatric Genetics, MacKay Children\u2019s Hospital, Taipei City 104217, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Szu-Wen","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, MacKay Children\u2019s Hospital, Taipei City 104217, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4234-772X","authenticated-orcid":false,"given":"Kai-Ti","family":"Tseng","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics, MacKay Memorial Hospital Tamshui Branch, New Taipei City 251404, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5011-7499","authenticated-orcid":false,"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei City 100225, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.bcmd.2015.12.009","article-title":"Red blood cell PK deficiency: An update of PK-LR gene mutation database","volume":"57","author":"Canu","year":"2016","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/ijlh.13014","article-title":"Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia","volume":"41","author":"Rets","year":"2019","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e228","DOI":"10.1016\/S2352-3026(23)00377-0","article-title":"Diagnosis and management of pyruvate kinase deficiency: International expert guidelines","volume":"11","author":"Shehata","year":"2024","journal-title":"Lancet Haematol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.pedneo.2020.08.007","article-title":"A novel mutation of PKLR gene in a Taiwanese neonate initially presented with severe hemolytic anemia","volume":"61","author":"Hou","year":"2020","journal-title":"Pediatr. 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