Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Due to a lack of an enzymatic assay for GSD type III and a certain unreliability of the assay for GSD type IX, our finding could help clinicians in differential diagnosis to better target and select appropriate genetic analysis for the suspected patients. We hypothesize that the detected profound ApoC-III hypoglycosylation in these two disorders results from reduced availability of the nucleotide-monosaccharides, specifically UDP-GalNAc, in the corresponding glycosylation reactions.