- Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. Tang, N.L., Ganapathy, V., Wu, X., Hui, J., Seth, P., Yuen, P.M., Wanders, R.J., Fok, T.F., Hjelm, N.M. Hum. Mol. Genet. (1999)