Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia

Currently we know not more than 50 patients who show an interesting combina tion of increased plasma ornithine concentrations, postprandial hyperammone mia, and homocitrullinuria (HHH-syndrome). Since exact knowledge of this se vere, although rare syndrome is important for any perioperative or intensiv e medical treatment concerning therapy and progression of the disease, we r eport a comprehensive study on a 32-year old woman with this rare multiface ted disorder who had to undergo general anaesthesia. For the first time ami no acid status in plasma, urine, cerebrospinal fluid and especially polymor phonuclear leucocytes, which in the investigation showed to be valuable too l for evaluating amino acid metabolism in nucleated cells in HHH-syndrome, and further important pathophysiologic indicators of cellular and metabolic function have been conscientiously investigated and compared. The pathophy siological. repercussions of our results as well as the recommendations for conscientious therapeutical management are discussed.