Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.

Abstract

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy production and storage in several human tissues while also being a precursor for glycosylation. Galactosylated glycoconjugates, such as glycoproteins, keratan sulfate-containing proteoglycans and glycolipids, exert a plethora of biological functions, including structural support, cellular adhesion, intracellular signaling and many more. The biological relevance of galactose is further entailed by the number of pathogenic conditions consequent to defects in galactosylation and galactose homeostasis. The growing number of rare congenital disorders involving galactose along with its recent therapeutical applications are drawing increasing attention to galactose metabolism. In this review, we aim to draw a comprehensive overview of the biological functions of galactose in human cells, including its metabolism and its role in glycosylation, and to provide a systematic description of all known congenital metabolic disorders resulting from alterations of its homeostasis.

• Authors: Federica Conte, Nicole van Buuringen, Nicol C Voermans, Dirk J Lefeber
• Journal: Biochimica et biophysica acta. General subjects (Biochim Biophys Acta Gen Subj) Vol. 1865 Issue 8 Pg. 129898 (08 2021) ISSN: 1872-8006 [Electronic] Netherlands
• PMID: 33878388 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Chemical References

• Galactose

Topics

• Congenital Disorders of Glycosylation (metabolism, pathology)
• Galactose (metabolism)
• Glycosylation
• Homeostasis
• Humans
• Metabolic Diseases (metabolism, pathology)