Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.
Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting in unusual structures.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D000641:Ammonia / Q000097:blood*; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D005347:Fibroblasts / Q000648:ultrastructure; D005808:Genes, Recessive; D006801:Humans; D007425:Intracellular Membranes / Q000648:ultrastructure; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D009952:Ornithine / Q000097:blood*; D012867:Skin / Q000473:pathology*
C001352:homocitrulline; D002956:Citrulline; D000641:Ammonia; D009952:Ornithine