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

• Published in: Amino acids Vol. 21; no. 3; pp. 303 - 318
• Main Authors: Mühling, J, Dehne, M G, Fuchs, M, Sablotzki, A, Weiss, S, Spatz, J, Hempelmann, G
• Format: Journal Article
• Language: English
• Published: Austria Springer Nature B.V 01.01.2001
• Subjects: Adult; Amino acids; Amino Acids - blood; Ammonia - blood; Anesthesia; Blood Coagulation Tests; Cerebrospinal fluid; Citrulline - analogs & derivatives; Citrulline - urine; Clinical Chemistry Tests; Female; Humans; Hyperammonemia; Leukocytes; Medical treatment; Metabolism; Monitoring, Physiologic - methods; Monitoring, Physiologic - standards; Ornithine; Ornithine - blood; Patients; Syndrome
• ISSN: 0939-4451; 1438-2199
• DOI: 10.1007/s007260170016

Currently we know not more than 50 patients who show an interesting combination of increased plasma ornithine concentrations, postprandial hyperammonemia, and homocitrullinuria (HHH-syndrome). Since exact knowledge of this severe, although rare syndrome is important for any perioperative or intensive medical treatment concerning therapy and progression of the disease, we report a comprehensive study on a 32-year old woman with this rare multifaceted disorder who had to undergo general anaesthesia. For the first time amino acid status in plasma, urine, cerebrospinal fluid and especially polymorphonuclear leucocytes, which in the investigation showed to be valuable tool 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 pathophysiological repercussions of our results as well as the recommendations for conscientious therapeutical management are discussed.