Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.

Background The mouse strain sparse fur with abnormal skin and hair (spfash) is a model for the human ornithine transcarbamylase (OTC) deficiency, an X-linked inherited urea cycle disorder. The spfash mouse carries a single base-pair mutation in the OTC gene that leads to the production of OTC enzyme at 10% of the normal level.