Thesis defense Nurulamin Abu Bakar (Donders series 429)
19 June 2020
Promotors: prof. dr. D. Lefeber, prof. dr. R. Wevers
Co-promotors: dr. M. van Scherpenzeel
Glycomics by Mass Spectrometry For The Diagnosis of Congenital Disorders of Glycosylation (CDG)
Inherited metabolic diseases represent a vast, diverse and heterogenous group of genetic disorders. Patients with a genetic glycosylation disorder, known as congenital disorders of glycosylation (CDG), often have to wait years to get a diagnosis due to the large variety of clinical symptoms and a lack of proper biomarkers. In our study, we investigated the potential of glycomics by mass spectrometry (MS) to find the disease biomarkers for early diagnosis and treatment monitoring for CDGs. As a results, we discovered several novel biomarkers for the diagnosis and therapeutic monitoring for CDG. Furthermore, we combined glycomics and genomics to discover novel gene defects, thereby providing patients with a long sought diagnosis. In conclusion, we have shown the relevance of glycomics to improve patient care by faster diagnostics, better understanding of the disease mechanisms, and improved possibilities to monitor the effect of therapy.