Welcome to the Ornithine Transcarbamylase website
transcarbamylase (OTC) is an enzyme of the
cycle. The urea
cycle functions primarily in the liver, and is a metabolic
pathway that detoxifies ammonia by converting it into urea.
Ammonia is generated from the conversion of proteins and
nucleic acids in our diet as well as due to normal cellular
turnover. Defects of the urea cycle result in
hyperammonemia which can progress to brain edema and result
in cognitive impairment or death.
Ornithine transcarbamylase deficiency is an inborn error of
metabolism usually caused by mutations in the OTC
gene. Ornithine transcarbamylase deficiency affects
approximately 1:16000 children, and accounts for nearly
half of all inherited urea cycle disorders. Shown below is a schematic of a cell with
the various enzymes of the urea cycle highlighted.