[H-H-H syndrome: a rare disease also relevant in anesthesiology].
We report on a 17-year-old boy with H-H-H-syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuresis), an inborn disorder of the urea cycle, who had to undergo osteo-synthesis of a fractured upper leg. Pathophysiological aspects of this rare syndrome as well as possible recommendations for the anaesthesiological management are discussed.
D000293:Adolescent; D000641:Ammonia / Q000097:blood*; D000768:Anesthesia, General; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D005264:Femoral Fractures / Q000601:surgery*; D005593:Fracture Fixation, Internal; D006801:Humans; D008297:Male; D009952:Ornithine / Q000097:blood*; D011183:Postoperative Complications / Q000378:metabolism; D013577:Syndrome; D014945:Wound Healing
C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine
Das H-H-H-Syndrom: eine selten, auch anästhesiologisch relevante Erkrankung.