Table 4.
The misdiagnosis results and genetic analysis for IMDs.
| IMDs | Cases | ML system | Reference interval | Zygosity | Genetic analysis |
|---|---|---|---|---|---|
| PAHD | Case 1 | High risk | Normal (PHE = 78.66 μmol) | Heterozygous | PAH, c.1197A>T (p.V399V) |
| Case 2 | Low risk | Abnormal (PHE = 103.02 μmol/L) | Compound heterozygous | PAH, c.1315 + 6T>A; c.158G>A (p.R53H) | |
| Case 3 | Low risk | Normal (PHE = 54.05 μmol/L) | Heterozygous | PAH, c.527G>A (p.R176Q) | |
| Case 4 | Low risk | Normal (PHE = 56.19 μmol/L) | Heterozygous | PAH, c.510T>A (p.H170Q) | |
| PCD | Case 5 | High risk | Normal (C0 = 9.79 μmol/L) | Homozygous | SLC22A5, c.1400C>G (p.S467C) |
| MMA | Case 6 | High risk | Normal (C3 = 3.96 μmol/L) | Homozygous | MUT, c.1663G>A (p.A555T) |
| 3-MCCD | Case 7 | Low risk | Abnormal (C5OH = 0.56 μmol/L) | Heterozygous | MCCC1, c.1331G>A (p.R444H) |
| Case 8 | Low risk | Abnormal (C5OH = 0.53 μmol/L) | Heterozygous | MCCC1, c.639 + 2T>A (p.S164Rfs*3) | |
| Case 9 | Low risk | Abnormal (C5OH = 0.54 μmol/L) | Heterozygous | MCCC1, c.1681 + 34T>A | |
| Case 10 | High risk | Normal (C5OH = 0.48 μmol/L) | Heterozygous | MCCC1, c.1679dup (p.N560Kfs*10) | |
| NICCD | Case 11 | High risk | Normal (CIT = 24.69 μmol/L) | Heterozygous | SLC25A13, c.775C>T (p.Q259*) |
| CIT I | Case 12 | High risk | Normal (CIT = 28.14 μmol/L) | Heterozygous | ASS1, c.207_209del (p.E71del) |
| HMET | Case 13 | Low risk | Abnormal (MET = 55.49 μmol/L) | Heterozygous | MAT1A, c.1070C>T (p.P357l) |
| Case 14 | Low risk | Abnormal (MET = 51.7 μmol/L) | Heterozygous | MAT1A, c.1070C>T (p.P357l) | |
| Case 15 | Low risk | Abnormal (MET = 63.0 μmol/L) | Heterozygous | MAT1A, c.315C>A (p.N105K) | |
| MACCD | Case 16 | Low risk | Abnormal (C10:1 = 0.28 μmol/L | Heterozygous | ACADM, c.709-1G>A |
| C6 = 0.18 μmol/L | |||||
| C8 = 0.34 μmol/L | |||||
| C8:1 = 0.6 μmol/L | |||||
| C10 = 0.3 μmol/L) |
ML, machine Learning; PAHD, phenylalanine hydroxylase deficiency; PCD, primary carnitine deficiency; MMA, methylmalonic acidemia; 3-MCCD, 3-methylcrotonyl-CoA carboxylase deficiency; NICCD, neonatal intrahepatic cholestasis caused by citrin deficiency; HMET, hypermethioninemia; MCADD, medium chain acyl-CoA dehydrogenase deficiency; PHE, phenylalanine; CIT, citrulline; MET, Methionine; C0, free carnitine; C3, propionylcarnitine; C5OH, 3-hydroxy (OH) isovalerylcarnitine; C6, hexanoylcarnitine; C8, octanoylcarnitine; C8:1, octenoylcarnitine; C10, decanoylcarnitine.