TABLE 1.

Natural mutations of CPT1A found in patients.

Gene	Protein	Disease Description	Effect	References
c.367C>T	R123C	CPT1A deficiency	—	Brown et al. (2001)
c.912C>T/c.912C>G	C304W	CPT1A deficiency	decreased stability	Brown et al. (2001)
c.941C>T	T314I	CPT1A deficiency	—	Stoler et al. (2004)
c.946C>G	R316G	CPT1A deficiency	—	Bennett et al. (2004)
c.1027T>G	F343V	CPT1A deficiency	—	Bennett et al. (2004)
c.1069C>T	R357W	CPT1A deficiency	decreased stability	Brown et al. (2001)
c.1079A>G	E360G	CPT1A deficiency	reduced protein levels	Ogawa et al. (2002)
—	R395 (missing)	CPT1A deficiency	loss of activity	Brown et al. (2001)
c.1241C>T	A414V	CPT1A deficiency	decreased activity	Gobin et al. (2002), Gobin et al. (2003)
c.1361A>G	D454G	CPT1A deficiency	loss of activity	IJlst et al. (1998)
c.1393G>T	G465W	CPT1A deficiency	—	Bennett et al. (2004)
c.1436C>T	P479L	CPT1A deficiency	decreased activity	Brown et al. (2001)
c.1451T>C	L484P	CPT1A deficiency	decreased stability	Brown et al. (2001)
c.1493A>G	Y498C	CPT1A deficiency	decreased activity	Gobin et al. (2002), Gobin et al. (2003)
c.2126G>A	G709E	CPT1A deficiency	loss of activity	Gobin et al. (2003)
c.2129G>A	G710E	CPT1A deficiency	loss of activity	Prip-Buus et al. (2001), Gobin et al. (2003)