Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency: Two case reports.

Introduction: Ornithine transcarbamylase deficiency (OTCD) is a common metabolic disease of urea circulation disorder. We reported the clinical, brain imaging and genetic characteristics of 2 cases with OTCD. The patients' clinical features, novel gene mutations, cranial MR specific imaging changes and blood tandem mass spectrometry, and urine gas chromatography-mass spectrometry were, retrospectively, analyzed.