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...

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Veröffentlicht in:	Journal of inherited metabolic disease 1984-12, Vol.7 (4), p.147-150
Hauptverfasser:	Metoki, K., Hommes, F. A., Dyken, P., Kelloes, C., Trefz, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - metabolism Amino Acid Metabolism, Inborn Errors - pathology Aminoacid disorders Ammonia - blood Biological and medical sciences Citrulline - analogs & derivatives Citrulline - urine Errors of metabolism Fibroblasts - ultrastructure Genes, Recessive Humans Intracellular Membranes - ultrastructure Medical sciences Metabolic diseases Microscopy, Electron Mitochondria - ultrastructure Ornithine - blood Skin - pathology
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Beschreibung
Zusammenfassung:	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.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/BF01805595