Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

We describe six new mutations in the ornithine transcarbamylase (OTC) gene found in patients with OTC deficiency. These mutations were detected by single-strand conformational polymorphism analysis of amplified genomic DNA and characterized by direct sequencing of double-stranded DNA. Three of the mutations were found in males who had neonatal onset of hyperammonemia.