| Autor: |
Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-10 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2090-2441 |
| DOI: |
10.1186/s43042-020-00117-w |
| Popis: |
Abstract Background 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. 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. Results The 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). Conclusion Although 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
|
Nepřihlášeným uživatelům se plný text nezobrazuje |
K zobrazení výsledku je třeba se přihlásit.
|
