Ultrastructural changes in fibroblast mitochondria of a patient with HHH‐syndrome
- 30 January 1984
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 7 (4) , 147-150
- https://doi.org/10.1007/bf01805595
Abstract
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.This publication has 22 references indexed in Scilit:
- The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria‐syndrome patientJournal of Inherited Metabolic Disease, 1983
- Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1982
- Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemiaJournal of Inherited Metabolic Disease, 1980
- On the pathogenesis of mitochondrial myopathiesActa Neuropathologica, 1979
- Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated MusclesPediatric Research, 1977
- A MITOCHONDRIAL MYOPATHY CHARACTERIZED BY A DEFICIENCY IN REDUCIBLE CYTOCHROME bBrain, 1977
- Electron microscopy of human skin fibroblasts in situ during growth in cultureExperimental Cell Research, 1975
- Electron microscopy of human fibroblasts in tissue culture during logarithmic and confluent stages of growthExperimental Cell Research, 1970
- A CASE OF SEVERE HYPERMETABOLISM OF NONTHYROID ORIGIN WITH A DEFECT IN THE MAINTENANCE OF MITOCHONDRIAL RESPIRATORY CONTROL: A CORRELATED CLINICAL, BIOCHEMICAL, AND MORPHOLOGICAL STUDYJournal of Clinical Investigation, 1962