Table 2.
The clinical cases diagnosed by newborn screening using tandem mass spectrometry.
| Class | Deficit (Acronym) | Marker Concentration * (Cut off) | Gene | Mutation |
|---|---|---|---|---|
| AA | Hypermethioninemia (MET) | Met = 207.0 (31.0) | MAT I, MAT III | in progress |
| AA | Non ketotic hyperglycinemia (NKG) | Gly = 1790 (740) |
GLDC AMT |
in progress |
| UCD | Argininosuccinic acid synthetase deficiency (CIT I) | Cit = 1412.8 (28.8) | ASS1 | compound Heterozygous c.323G > T exon 5 c.1022C > T exon 14 |
| FAO | Short chain acylCoA dehydrogenase deficiency (SCAD) | C4 = 1.06 (0.55) | ACADS | Homozygous c.625G > A |
| Heterozygous c.301G > A | ||||
| FAO | Medium chain acylCoA dehydrogenase deficiency (MCAD) | C6 = 2.46 (0.10) | ACADM | Homozygous c.253G > C |
| C8 = 20.82 (0.12) | ||||
| C10 = 1.68 (0.18) | ||||
| C10:1 = 0.33 (0.10) | ||||
| C8/C10 = 12.39 | ||||
| OA | Methylmalonic acidemia (MMA) with homocystinuria | C3 = 11.60 (3.84) | MMACHC | Heterozygous c.271-272dupA |
| OA | Methylmalonic acidemia (MMA) with homocystinuria | C3 = 49.79 (3.84) | MMACHC | ** |
| OA | Propionic acidemia (PA) | C3 = 7.99 (3.84) | PCCA | Homozygous c.1899_1953del |
| OA | Maternal Vitamin B12 deficiency | C3 = 7.15 (3.84) | GIF | n.a. |
| OA | Maternal 3-methyl crotonylCoA carboxylase deficiency (3MCC) | C5OH\C4DC = 4.68 (0.32) |
MCCC1 MCCC2 |
n.a. |
| C0 = 4.69 (8.00) | ||||
| OA | MalonylCoA decarboxilase deficiency | C4OH\C3DC = 0.41 (0.25) | MLYCD | Homozygous c.1283C > T |
| OA | 3-OH-3-methylglutarylCoA lyase | C6DC = 0.72 (0.36) C5OH\C4DC = 0.26 (0.32) | HMGCL | n.a. |
AA = amino acid disorders, OA = organic aciduria, FAO = fatty acid oxidation deficiency; Met = methionine, Gly = glycine, Cit = citrulline, C0 = free carnitine, C3 = propionylcarnitine, C3DC = malonylcarnitine, C4 = butyrylcarnitine, C4DC = methylmalonylcarnitine, C4OH = 3-hydroxybutyrylcarnitine, C5OH = 3-hydroxy -isovalerilcarnitine, C6 = hexanoylcarnitine, C6DC = adipylcarntine, C8 = octanoylcarnitine, C10 = decanoylcarnitine, C10:1 = decenoylcarnitine; * unit of measurement for concentrations μM; ** genetic analysis refused by parents; n.a. = not available.