Intrinsic Factor antibodies | Negative antibodies |
Parietal Cell antibodies | |
Gastric Intrinsic Factor Protein (GIF) | No pathogenic mutations on WES (coverage × 30, last 5 exons of AMN × 3–5) |
Cubilin (CUB) | |
Megalin (LRP2) | |
Amnioless (AMN) | |
Total Haptocorrin (TCN1) | 592 pmol/L (normal 240-680) |
Plasma Total Transcobalamin (TCNII)* | 1520 pmol/L (normal 500-1.500) |
Plasma Holotranscobalamin* | 182 pmol/L (normal 40-160) |
Transcobalamin Receptor related genes (TCbR, CD320, TCN1, TCN2) | Absence of (262_264delGAG and 297delA) by targeted mutation analysis [17] |
No pathogenic mutations by WES (coverage > × 20) | |
[14C]-propionate incorporation (f) | 11.0 nmol/mg protein/18 h (normal 10.8 ± 3.7 nmol/mg protein/18 h) |
[14C]-methylene tetrahydrofolate incorporation (f) | 250 pmol/mg protein/18 h (normal 225 ± 165 pmol/mg protein/18 h) |
[57Co]-cyanocobalamin uptake (f) | 16.9 pg/106 cells (normal 13.2 ± 4.8 pg/106) |
[57Co]-cyanocobalamin conversion to adenosylcobalamin (f) | 5.7. % of intracellular cobalamin (normal 15.3 ± 4.2) |
[57Co]-cyanocobalamin coversion to methylcobalamin (f) | 53.0% (normal 58.0 ± 6.7) |