"we report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder."xsd:string