Jos Jansen

118 Chapter 5 Figure 3. Abnormal tIEF result. A. Waffle chart that shows the distribution of the abnormal tIEF samples. B. Individual medians for the abnormal samples per TF isoform. The dotted line represents upper limit of normal based on internal standards. QTOF-MS analysis of preselected liver disease patients did not identify profiles compatible with V-ATPase assembly factor defects. Of the 110 high quality QTOF-MS profiles, none had a distinguishable type 1 CDG pattern. The peak associated with non-glycosylated TF (peak 75140) was only present in one LTx patient with progressive familial intrahepatic cholestasis syndrome (1.2% of total glycan abundance), one CLD patient with auto-immune hepatitis (1.1%) and three HC (all < 1% total glycan abundance). Both patients had a normal percentage of asialoTF in tIEF screening and the six patients with an elevated asialoTF fraction with tIEF analysis did not have a detectable peak with mass 75140, corresponding to non-glycosylated transferrin. Peak 77350, which corresponds to loss of one glycan, was present in all but five samples and was not significantly different among the groups (data not shown). We did not identify samples that showed typical glycan structural abnormalities that are seen in type 2 CDG profiles and did not identify a pattern compatible with a V-ATPase assembly factor deficiency. We identified two samples (2/110 = 1.8%) with clearly elevated trisialo TF isoform abundance. The first patient in the CLD group was a female, age 55 at sampling, who was seen at the outpatient clinic for hepatic steatosis. Her profile showed an elevated trisialo TF isoform of 15.0%, (median for the CLD group is 2.0%)