Table 1.

Mouse models of defects in mitochondrial β-oxidation of fatty acids

Enzyme deficiency	Mouse phenotype	References
Carnitine palmitoyl-CoA transferase-1a (liver isoform)	Homozygous lethal in early gestation, heterozygous mice have normal phenotype	Nyman et. al., 2005 (8)
Carnitine palmitoyl-CoA transferase-1b (muscle isoform)	Homozygous lethal in early gestation, heterozygous mice have normal phenotype	Ji et al., 2008 (9)
Very long-chain acyl-CoA dehydrogenase deficiency: two independent mouse models	Cardiac phenotype: VLCAD −/− displays milder version of LCAD−/− phenotype; Hepatic and myopathic phenotypes after stress	Cox et al., 2001 and 2009 (10, 6) Exil et al., 2003 (11) Spiekerkoetter et al., 2004 and 2005 (12, 4)
Long-chain acyl-CoA dehydrogenase deficiency	Sudden death, gestational loss, fatty change of liver and heart, cold intolerance,	Kurtz et al., 1998 (7), Guerra, et al., 1998 (13)
Medium-chain acyl-CoA dehydrogenase deficiency	neonatal deaths, fasting intolerance, cold intolerance	Tolwani, et al., 2005 (14)
Mitochondrial trifunctional protein deficiency (α-subunit deficiency)	Neonatal hypoglycemia, fatty change of liver, necrosis and degeneration of cardiac and diaphragmatic myocytes, lethal	Ibdah et al. 2001 (15)
Mitochondrial trifunctional protein (β-subunit deficiency)	Viable, no further characterization	Personal communication Arnold Strauss, Cincinnati, USA
Medium-/short-chain 3-hydroxyacyl-CoA dehydrogenase	Fasting and cold intolerance with development of fatty liver and kidney	Personal communication Arnold Strauss, Cincinnati, USA