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Abstract
BackgroundCongenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinical presentation is very characteristic for all types of CDGs; symptoms include severe neurological manifestations that usually start in the neonatal period and cause aggressive irreversible neurological damage. These disorders are usually misdiagnosed as other non-inheritable disorders or remain undiagnosed for a long time, leading to severe neurological complications. The diagnosis of CDGs is quite tedious due to their diverse clinical presentation. In Egypt, there is still no available screening programme to detect CDGs in patients at a young age. Therefore, the need for a reliable rapid test that uses a small sample size has emerged.This study included 50 suspected subjects and 50 healthy controls with matching age and sex. Western blotting and liquid chromatography-tandem mass spectrometry were used for the analysis of N- and O-glycans, respectively.ResultsThe study detected 9 patients with hypoglycosylation (18%). Eight of the nine patients showed abnormal separation of N-glycoproteins using Western blotting indicative of reduced glycosylation (16% of the study subjects and 89% of the subjects with hypoglycosylation). Only one of the nine patients showed a decreased level of sialyl-T-antigen with a normal T-antigen level leading to an increased T/ST ratio (2% of study subjects and 11% of the subjects with hypoglycosylation).ConclusionAlthough N- and O-glycan analysis did not determine the underlying type of CDG, it successfully detected hypoglycosylation in 9 clinically suspected patients (18% of the studied subjects). All detected CDG cases were confirmed by molecular analysis results of mutations causing 4 different types of congenital disorders of glycosylation.
Highlights
Congenital disorders of glycosylation (CDG) are defined as a group of several rare autosomal recessive inborn errors of metabolism (IEM) that affect the glycosylation of many proteins and/or lipids
If we compare the subjects from the consanguineous group to those from the nonconsanguineous group, 56% of subjects coming from consanguineous marriages had a previous family history while only 23% of subjects coming from a non
We studied the N-glycosylation profile for subjects and controls using Western blotting (WB), while the O-glycosylation profile was studied by LC-MS/MS techniques
Summary
Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids. Variable clinical presentation is very characteristic for all types of CDGs; symptoms include severe neurological manifestations that usually start in the neonatal period and cause aggressive irreversible neurological damage. These disorders are usually misdiagnosed as other non-inheritable disorders or remain undiagnosed for a long time, leading to severe neurological complications. Congenital disorders of glycosylation (CDG) are defined as a group of several rare autosomal recessive inborn errors of metabolism (IEM) that affect the glycosylation of many proteins and/or lipids These disorders result from the deficiency of one of the enzymes or transporters of any of the glycosylation pathways. As a result of this resemblance and physician unawareness of the existing CDGs, many CDGs remain under or misdiagnosed [2]
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