Table 1.
Mouse models of Inborn Errors of Metabolism
| Human disease | Phenotype of mouse model | References |
|---|---|---|
| VLCAD Deficiency | Mild hepatic steatosis, cold intolerance, increased C16- C18-acylcarnitines in bile and serum of VLCAD−/− mice. | Cox et al. 2001 [51] Exil et al. 2003 [52] |
| MCAD deficiency | MCAD−/− mice developed an organic aciduria and fatty liver, sporadic cardiac lesions and showed profound cold intolerance. | Tolwani et al. 2005 [54] |
| LCAD Deficiency | Sudden death, fasting intolerance, cold intolerance, hypoketotic-hypoglycemia in LCAD−/− mouse. | Kurtz et al. 1998 [53] |
| SCAD deficiency | Mitochondrial swelling, micro-vesicular fatty changes in hepatocytes, non-ketotic hypoglycemia, and cold intolerance in SCAD deficient BALB/cByJ mice. | Armstrong et al. 1993 [55] |
| OCTN2 deficiency | OCTN2-type carnitine transporter is dysfunctional in JVS mice, exhibiting hereditary systemic carnitine deficiency. | Yokogawa et al. 1999 [57] |
| CPT-1a deficiency | Decreased Cpt-1a mRNA expression in liver, heart, brain, testis, kidney, and white fat in CPT-1a +/− mice. | Nyman et al., 2005 [50] |
| MTP deficiency | Fetal growth retardation, neonatal hypoglycemia, and sudden death after birth in Mtpa(−/−) mice. | Ibdah et al. 2001 [56] |
VLCAD: very long-chain acyl-CoA dehydrogenase; MCAD: medium-chain acyl-CoA dehydrogenase; LCAD: long-chain acyl-CoA dehydrogenase; SCAD: short-chain acyl-CoA dehydrogenase; MTP: mitochondrial trifunctional protein