Epidemiology and Prevalence of Patients with Congenital Disorders of Glycosylation in Malaysia

Abstract

Congenital disorders of glycosylation (CDG) are rarely, inherited metabolic diseases in which the glycosylation process is severely impaired. The prevalence has not been well determined and the aims of this study were to describe the epidemiology and calculate the birth prevalence of CDG in the Malaysian population. From 2018 to 2022, 548 patients were suspected with CDG. Sample were collected and analysed using isoelectric focusing (IEF) and capillary zone electrophoresis (CZE) methods. Qualitative measurement of sialo pattern was determined to categorised CDG Type I, II and abnormal transferrin pattern. Transferrin level was quantitated using automated BN ProSpec® System as well as demographic and clinical features were documented. The distribution of CDG was 0.4% and 2.9% was diagnosed as abnormal transferrin types. The prevalence of CDG among Malaysian was 0.22 per 100,000 live births and the combined prevalence of abnormal pattern was 0.85 per 100,000 live births. Positive cases were found in infants of Malay ethnicity. Overall, the prevalence of CDG in Malaysia was low and may be underestimated yet consistent with other reported in other countries.