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

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.