[Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

Background: Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. The disease normally manifests itself shortly after birth and is fatal when untreated. Due to the different expression and X-chromosomal inheritance the manifestation of symptoms can appear later particularly in girls and young women.