Table 4.
Mutation analysis and residual enzymatic activity in patients with MCADD, VLCADD and MADD.
| ID Patient | NBS or No-NBS | Disease | Gene | Mutation 1 | Mutation 2 | Enzimatic activity |
|---|---|---|---|---|---|---|
| Pt 1 | NBS | VLCADD/LCHADD | ACADVL | c.1269 + 1G > A | – | 45% |
| Pt 2 | NBS | VLCADD | ACADVL | IN PROGRESS | IN PROGRESS | 10% |
| Pt 3 | NBS | VLCADD | ACADVL | c.1096C > T p.Arg366Cys | c.604C > G p.Leu202Val | 18% |
| Pt 4 | NBS | VLCADD | ACADVL | c.848 T > C p.Val283Ala | c.848 T > C p.Val283Ala | 12% |
| Pt 5 | NBS | VLCADD | ACADVL | c.848 T > C p.Val283Ala | c.848 T > C p.Val283Ala | 12% |
| Pt 6 | NBS | MCADD | ACADM | c.817_829del p.Ala273Leufs*7 | c.388-14A > G | 4% |
| Pt 7 | NBS | MCADD | ACADM | c.244insT | c.978G > A p.Met326Ile | 0% |
| Pt 8 | NBS | MCADD | ACADM | c.985 A > G p.Lys329Glu | c.985 A > G p.Lys329Glu | 0% |
| Pt 11 | NBS | MCADD/MADD | ACADM | c.31-1G > A | – | 35% |
| Pt 12 | NBS | MCADD/MADD | ACADM | c.31-1G > A | – | 45% |
| Pt 13 | NBS | MADD | ETFDH | c.1387G > C p.Gly463Arg | c.1387G > C p.Gly463Arg | C10,C12,C14,C16 |
| Pt 14 | NBS | MADD | ETFDH | c.1448C > T, p.Pro483Leu | c.814G > A, p.Gly272Arg | C5,C12,C14 |
| Pt 24 | No-NBS | VLCADD | ACADVL | c. 1500_1502del p.(Leu502del) | c. 1500_1502del p.(Leu502del) | 5% |
| Pt 27 | No-NBS | MCADD/MADD | ACADM | c.31-1G > A | – | 49% |
The measurement of VLCAD and MCAD enzyme residual activity was performed in lymphocytes by assaying the oxidation rate of palmitoyl-CoA and the oxidation rate of octanoyl-CoA, respectively. The residual activity of the patients was expressed as percent of the mean value of all controls. The measurement of MAD residual activity was achieved in fibroblasts by assaying the oxidation rate of palmitoyl-CoA.