This chapter discusses inherited human diseases that are caused by defects in glycan biosynthesis and metabolism (congenital disorders of glycosylation, CDGs). Representative examples are described of genetic defects in the major glycan families and what lessons we can learn from them about glycobiology. Among genetic disorders of glycosylation, those caused by somatic mutations are described in Chapter 46. Disorders affecting the lysosomal degradation of glycans are described in Chapter 44. Although the term “congenital disorders” by definition include those caused by nongenetic, unfavorable in utero conditions, the term “congenital disorders of glycosylation (CDG)” is now widely used as an equivalent of inherited disorders of glycosylation.

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