Table 1.
Genotypes of FAO-deficient patients for which pharmacological compounds have been tested.
| Mutated Gene | Amino Acid Change | Amino Acid Change | Effects | References |
|---|---|---|---|---|
| p.Pro50His | p.Asp608His | + | [97] | |
| p.Arg51Gly | p.Glu174Lys | + | [84] | |
| p.Ser113Leu | p.Ser113Leu | + | [78,80,97,98], this review | |
| p.Ser113Leu | p.Ser38fs | + | [78,99,100], this review | |
| p.Ser113Leu | p.Ser38AlafsX35 | + | [97,98] | |
| p.Ser113Leu | p.Ser38AlafsX36 | + | [100], this review | |
| CPT2 | p.Ser113Leu | p.Arg124Gln | + | [78,99,100], this review |
| p.Ser113Leu | p.Asn146Thr | + | [78,100], this review | |
| p.Ser113Leu | p.Phe188Ser | + | [80] | |
| p.Ser113Leu | p.Trp201X | + | [97,98] | |
| p.Ser113Leu | p.Gly377Asp | + | [97,98] | |
| p.Ser113Leu | p.Phe448Leu | + | this review | |
| p.Ser113Leu | p.Tyr628Ser | + | [80,100] | |
| p.Asp328Gly | p.Asp328Gly | - | [78,100] | |
| p.Gln13X | p.Arg286Gly | - | [39,87] | |
| p.Gly34fsX60 | p.Gly34fsX60 | - | [39] | |
| p.Pro65Leu+Lys247Gln | p.Pro65Leu+Lys247Gln | - | [39] | |
| p.Pro89Ser | p.Ala536fsX550 | ± | [39] | |
| p.Pro91Gln | p.Gly193Arg | + | [39] | |
| p.Asn122Asp | p.Asn122Asp | - | [39,86,87] | |
| p.Ser148Gly | p.Arg511Trp | ± | [39] | |
| p.Val174Met | p.Val174Met | + | [39,86,87,100], this review | |
| p.Val174Met | p.Glu609Lys | + | [101] | |
| p.Gly185Ser | p.Asn252_His293del42 | - | [39,87,100] | |
| p.Gly185Ser | p.Gly294Glu | - | [39] | |
| p.Gly222Arg | p.Gly222Arg | - | [39,87] | |
| p.Gly222Arg | p.Glu504Asp | + | [39,99,100], this review | |
| p.Arg229X | p.Arg613Trp | - | [39] | |
| p.Asn252_His293del42 | p.Gly441Asp | - | [39,87,100] | |
| p.Thr260Met | p.Ala640fsX679 | - | [39,87] | |
| p.Lys264Glu | p.Lys264Glu | +; ± | [39,100], this review | |
| p.Lys264Glu | p.Ala333fsX358 | ± | [39,84], this review | |
| VLCAD | p.Lys264Glu | p.Met437Val | + | [39,100] |
| p.Val283Ala | p.Val283Ala | + | [39,86,99,100], this review | |
| p.Val283Ala | p.Lys382Asn | ± | this review | |
| p.Val283Ala | p.Gly441Asp | + | [39,100], this review | |
| p.Val283Ala | p.Glu462Lys | ± | [39,100], this review | |
| p.Val283Ala | p.? | + | [101] | |
| p.Lys299Met | p.Leu502Gln | ± | [39] | |
| p.Ala304Thr | p.Gly439Asp | ± | [39,87], this review | |
| p.Ala333fsX358 | p.Lys382Gln | + | [39,100], this review | |
| p.Arg366His | p.Arg453X | ± | [39,87] | |
| p.Lys382Gln | p.Gly447Arg | +; ± | [39,84,99,100], this review | |
| p.Lys382Gln | p.Glu130fsX216 | ± | [39,87], this review | |
| p.Asp405His | p.Arg450His | ± | [39,87] | |
| p.Ala416Thr | p.Arg450His | ± | [39,100], | |
| p.Ala416Thr | p.Lys600fsX679 | ± | [39,87] | |
| p.Arg453Gln | p.Arg453Gln | - | [39,87] | |
| p.Arg456His | p.Arg615Gln | + | [39,100], this review | |
| p.Arg469Trp | p.Arg469Trp | - | [39] | |
| p.Lys540Pro | p.? | + | [101] | |
| p.Thr37SerfsX6 | p.? | + | [89] | |
| p.Lys267SerfsX7 | p.Lys267SerfsX7 | - | [89] | |
| p.Lys353IlefsX19 | p.Lys353IlefsX19 | - | [89] | |
| p.Glu446Lys | p.Gly703Arg | - | [89] | |
| p.Pro467_Ile495del | Pro467_Ile495del | + | [89] | |
| p.Glu510Gln | p.Glu510Gln | - | [89] | |
| HADHA | p.Glu510Gln | p.Thr37SerfsX6 | + | [89] |
| p.Glu510Gln | p.Ile305Asn | + | [89] | |
| p.Glu510Gln | p.Gly328Arg and p.Gln358Lys | + | [89] | |
| p.Glu510Gln | p.Leu571Pro | - | [89] | |
| p.Glu510Gln | p.Arg676His | - | [89] | |
| p.Glu510Gln | p.? | - | [102] | |
| p.Lys664ValfsX2 | p.Lys664ValfsX2 | - | [89] | |
| p.Val705Asp | p.Val705Asp | - | [89] | |
| p.Asn114Ser | p.? | + | [89] | |
| p.Arg247Cys | p.Asp273IlefsX20 | - | [89] | |
| HADHB | p.Ser383Leu | p.Ser383Leu | - | [89] |
| p.Asn389Asp | p.Asn389Asp | - | [89] | |
| p.Arg444Lys | p.Arg444Lys | - | [89] | |
| p.Val455Gly | p.Val455Gly | - | [89] | |
| p.Arg83Cys | p.Arg83Cys | ± | [102] | |
| SCAD | p.Arg83Cys | p.Gly185Ser | ± | [102] |
| p.Gly185Ser | p.Gly185Ser | ± | [102] | |
| p.Arg380Trp | p.Arg380Trp | ± | [102] | |
| MCAD | p.Lys329Glu | p.? | ± | [102] |
+: positive effects; -: no or negative effects; ±: mixed effects.