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Urea Cycle Disorders

Urea Cycle Disorders 

Urea Cycle Disorders (UCDs) are a group of rare inherited conditions that affect the body's ability to remove ammonia, a toxic waste product from the digestion of proteins. There are eight UCDs based on the lack of certain enzymes and proteins:

  • N-acetylglutamate synthase (NAGS) deficiency
  • Carbamoylphosphate synthetase I (CPS1) deficiency
  • Ornithine transcarbamylase (OTC) deficiency
  • Argininosuccinate synthase 1 (ASS1) deficiency or Citrullinemia type I
  • Citrin deficiency or Citrullinemia type II
  • Argininosuccinic lyase (ASL) deficiency
  • Arginase (ARG) deficiency
  • Ornithine translocase deficiency