Table 2. Genetic knockout mouse models of FAOD.
| Enzyme deficiency | Biochemical and histopathological phenotypes | References |
|---|---|---|
| SCAD | Increase in ethylmalonic and methylsuccinic acids and N-butyrylglycine in urine Fatty liver disease |
[78] |
| MCAD | Increase in hexanoyl carnitine, octanoylcarnitine, decanoylcarnitine and cis-4-decenoylcarnitine in plasma Neonatal mortality |
[87] |
| LCAD | Increase in free fatty acids and carnitine derivatives of C12:1, C14:1, C14:2, C18:1, C18:2, hyperlactic acidemia and hypoglycemia Cardiac and hepatic alterations |
[79] [80] |
| VLCAD | Low concentrations of free carnitine in blood and accumulation of long-chain acylcarnitines in tissues Increase in free fatty acids in blood Cardiac, hepatic and muscular alterations |
[81,89] [83] [84,85] |
| MTP α subunit LCHAD |
Increase in free fatty acids and carnitine derivatives of C14, C14:1, C16, C16:1, C18:1, C18:2 and hypoglycemia Cardiac and hepatic alterations |
[82] |
| CPT–1a liver | Homozygous are not viable | [86] |
| CPT–1b muscle | Homozygous are not viable | [88] |