ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies.

ABSTRACT: Enzymes catalyze biochemical reactions and play critical roles in human health and disease. Enzyme variants and deficiencies can lead to variable expression of glycans, which can affect physiology, influence predilection for disease, and/or directly contribute to disease pathogenesis. Although certain well-characterized enzyme deficiencies result in overt disease, some of the most common enzyme deficiencies in humans form the basis of blood groups. These carbohydrate blood groups impact fundamental areas of clinical medicine, including the risk of infection and severity of infectious disease, bleeding risk, transfusion medicine, and tissue/organ transplantation. In this review, we examine the enzymes responsible for carbohydrate-based blood group antigen biosynthesis and their expression w

SUBMITTER: Jajosky RP 

PROVIDER: S-EPMC9860303 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature