Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.

We aim to analyze the blood metabolic profiling and the gene mutation of ornithine transcarbamylase (OTC) in three neonates with ornithine transcarbamylase deficiency (OTCD). Three neonates with OTCD were included in this study. The profiling of amino acids and acylcarnitine was determined using MS-MS assay.