Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication

Jessica K Gagen; Rory J Tinker; John A Phillips 3rd; Yutaka Furuta

doi:10.1016/j.pedhc.2026.02.001

Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication

J Pediatr Health Care. 2026 Feb 26:S0891-5245(26)00043-X. doi: 10.1016/j.pedhc.2026.02.001. Online ahead of print.

Authors

Jessica K Gagen¹, Rory J Tinker², John A Phillips 3rd³, Yutaka Furuta⁴

Affiliations

¹ Pediatric Resident Physician, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.
² Assistant Professor, Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY.
³ Professor, Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN.
⁴ Mediacl Genetics Resident Physician, Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN. Electronic address: yutakafuruta8@gmail.com.

PMID: 41746225
DOI: 10.1016/j.pedhc.2026.02.001

Abstract

Introduction: Classic galactosemia (CG) is a rare metabolic disorder caused by galactose-1-phosphate uridylyltransferase deficiency, leading to toxic metabolite accumulation and life-threatening complications such as failure to thrive, sepsis, and acute liver failure. We hypothesize that coagulopathy is an underrecognized complication of CG and that this gap is reflected by limited documentation in the medical literature.

Methods: A PubMed literature review was conducted to identify articles describing coagulopathy in CG. We filtered for guidelines, meta-analyses, reviews, and systematic reviews. Our article screening followed PRISMA guidelines.

Results: Of 49 identified articles, 26/49 (53%) met inclusion criteria. Only 6/49 (12%) explicitly described coagulopathy in CG, and only 1/49 (2%) discussed management.

Discussion: These data supports our hypothesis that coagulopathy may be an underrecognized complication of CG by clinicians and identifies a gap in current medical literature. Improved early recognition of coagulopathy in neonates with CG could prevent delays in treatment and improve outcomes.

Keywords: Bleeding; Classic galactosemia; Coagulopathy; Underrecognized complication.