title: Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome.
abstract: Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH)-syndrome is a rare autosomal recessive disorder of the urea cycle, probably caused by a defect in ornithine transport across the hepatic inner mitochondrial membrane. Single rudimentary cilia were present in approximately ten percent of post-divisional or dividing fibroblasts cultured from the skin of a patient with the HHH-syndrome, whereas no such organelles were observed in dermal fibroblasts cultured from normal controls. Since single rudimentary ("primary," "oligo," "solitary") cilia have been observed in a variety of cells in animals and men but the stimuli for their formation and their significance remain controversial, a brief report on their presence in the as yet unreported condition (HHH-syndrome) was considered of interest; hopefully, it might contribute to the ultimate unravelling of some of the unresolved problems. It is of note that unlike the author's previous findings of these unusual organelles in cells affected by a pathological process (atherosclerosis), the rudimentary cilia were observed in the present instance in dividing or postdivisional cells. The implications of these (and other) observations must await further work.
authors.affiliation: Department of Pathology, University of Western Ontario, London, Canada.
authors.forename: M D
authors.initials: MD
authors.lastname: Haust
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism / Q000473:pathology*; D000641:Ammonia / Q000097:blood*; D000818:Animals; D002478:Cells, Cultured; D002923:Cilia / Q000648:ultrastructure*; D002956:Citrulline / Q000652:urine*; D018870:Endoplasmic Reticulum, Rough / Q000648:ultrastructure; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure*; D006801:Humans; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D009952:Ornithine / Q000097:blood*; D012867:Skin / Q000648:ultrastructure*; D013577:Syndrome; D014508:Urea / Q000378:metabolism
chemical_list: D002956:Citrulline; D000641:Ammonia; D014508:Urea; D009952:Ornithine