[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].

Abstract excerpt

OBJECTIVE: To discuss the clinical characteristics, diagnosis and treatment management of ornithine transcarbamylase deficiency (OTCD). METHOD: Data of the clinical diagnosis and treatment of a case with OTCD were analyzed, and the domestic and international literature was reviewed. RESULT: (1) The case was a boy, 8 years old; and the initial symptoms were vomiting and reduced consciousness for a day after eating...

Topics

• Base Sequence
• Brain Diseases
• Child
• Gas Chromatography-Mass Spectrometry
• Genetic Testing
• Humans
• Male
• Mutation
• Ornithine Carbamoyltransferase Deficiency Disease
• Orotic Acid
• Sequence Analysis, DNA
• Treatment Outcome
• Vomiting