Abstract
Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids1. The first disease of this group was reported in 19802. Since then, at least 16 entities were recognized and were classified in two groups (CDG-Ia to IL and CDG-IIa to IId). […] Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement
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