[Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].

Objective: To analyze the clinical and genetic characteristics of three children with ornithine carbamoyltransferase deficiency(OTCD), and to provide a practical method for gene diagnosis and genetic counseling of the disease.

Methods: All exons of the ornithine carbamoyltransferase (OTC) gene were screened by polymerase chain reaction-DNA direct sequencing in the three OTCD patients.

Results: One patient firstly presented as vomiting at 6 month of age.