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Updated: Feb 11, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
N-glycolylneuraminic acid deficiency in humans
1Glycobiology Research and Training Center and Department of Medicine, University of California, San Diego, La Jolla, CA 92093-0687, USA. avarki@ucsd.edu
Abstract:
Classic studies suggested that the common mammalian sialic acid N-glycolylneuraminic acid (Neu5Gc) is an oncofetal antigen in humans, being immunogenic in adult humans and yet apparently expressed in human fetuses and tumors. We and others have recently found that the human deficiency of Neu5Gc can be explained by an inactivating mutation in the gene encoding CMP-N-acetylneuraminic acid hydroxylase. Thus, Neu5Gc is not an oncofetal antigen in the classical sense, and other explanations must be found for the observed expression pattern. This review provides an update on this matter, and considers a variety of other old and new questions that arise from it.
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