Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis

Abstract

N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis, however, is often delayed. The aim of this study is to describe the perinatal phenotype of congenital disorders of N-glycosylation. We present an analysis of perinatal symptoms in a group of 24 one-center Polish patients with N-glycosylation defects—isolated or mixed. The paper expands the perinatal phenotype of CDGs and shows that some distinctive combinations of symptoms present in the perinatal period should raise a suspicion of CDGs in a differential diagnosis.

Metabolic encephalopathies in children: A pragmatic diagnostic approach based on literature analysis

“…The exception is protein glycosylation diseases, where CNS dysfunction is rarely progressive, although the course can be extremely severe from the perinatal period onward, with significant mortality also from extracerebral causes (cardiac and hematologic). 19,20 There are no data on the age distribution of CME manifestation. The data that Stromme et al cite in their paper are cumulative data, which also include encephalopathies classified as acute in this study.…”