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

IF 2 4区医学 Q2 HEALTH POLICY & SERVICES

Journal of Pediatric Health Care Pub Date : 2026-09-01 Epub Date: 2026-02-26 DOI:10.1016/j.pedhc.2026.02.001

Jessica K. Gagen MD, Rory J. Tinker MD, John A. Phillips III MD, Yutaka Furuta MD

{"title":"Coagulopathy in Neonates With Classic Galactosemia: A Life-Threatening Yet Underrecognized Complication","authors":"Jessica K. Gagen MD, Rory J. Tinker MD, John A. Phillips III MD, Yutaka Furuta MD","doi":"10.1016/j.pedhc.2026.02.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Introduction</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Discussion</h3><div>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.</div></div>","PeriodicalId":50094,"journal":{"name":"Journal of Pediatric Health Care","volume":"40 5","pages":"Pages e226-e230"},"PeriodicalIF":2.0000,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Health Care","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S089152452600043X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/2/26 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"HEALTH POLICY & SERVICES","Score":null,"Total":0}

引用次数: 0

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.

查看原文本刊更多论文

新生儿凝血功能障碍与经典半乳糖血症：一个危及生命但未被认识的并发症。

经典半乳糖血症（CG）是一种罕见的代谢性疾病，由半乳糖-1-磷酸尿苷基转移酶缺乏引起，导致有毒代谢物积累和危及生命的并发症，如发育不良、败血症和急性肝衰竭。我们假设凝血功能障碍是一种未被认识到的CG并发症，这一差距反映在医学文献的有限文献中。方法：通过PubMed文献综述，找出描述CG患者凝血功能障碍的文章。我们筛选了指南、荟萃分析、综述和系统综述。我们的文章筛选遵循PRISMA指南。结果：49篇文献中，26/49（53%）符合纳入标准。只有6/49（12%）明确描述了CG的凝血功能障碍，只有1/49（2%）讨论了管理。讨论：这些数据支持我们的假设，即凝血功能障碍可能是临床医生未充分认识到的CG并发症，并确定了当前医学文献中的空白。提高对新生儿凝血功能障碍的早期识别可以防止治疗延误并改善预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Pediatric Health Care NURSING-PEDIATRICS

CiteScore

3.40

自引率

10.70%

发文量

140

审稿时长

24 days

期刊介绍： The Journal of Pediatric Health Care, the official journal of the National Association of Pediatric Nurse Practitioners, provides scholarly clinical information and research regarding primary, acute and specialty health care for children of newborn age through young adulthood within a family-centered context. The Journal disseminates multidisciplinary perspectives on evidence-based practice and emerging policy, advocacy and educational issues that are of importance to all healthcare professionals caring for children and their families.