Literature DB >> 6441860

Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.

K Metoki, F A Hommes, P Dyken, C Kelloes, J Trefz.   

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.

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Year:  1984        PMID： 6441860     DOI： 10.1007/bf01805595

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  21 in total

1.  A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study.

Authors:  R LUFT; D IKKOS; G PALMIERI; L ERNSTER; B AFZELIUS
Journal:  J Clin Invest       Date:  1962-09       Impact factor: 14.808

2.  Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

Authors:  J P Van Biervliet; L Bruinvis; D Ketting; P K De Bree; C Van der Heiden; S K Wadman
Journal:  Pediatr Res       Date:  1977-10       Impact factor: 3.756

3.  Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  R G Gray; S E Hill; R J Pollitt
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

Review 4.  Mitochondrial myopathies. Clinical, morphological and biochemical aspects.

Authors:  R C Sengers; A M Stadhouders; J M Trijbels
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

5.  Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient.

Authors:  K Metoki; F A Hommes
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

7.  Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.

Authors:  S DiMauro; J R Mendell; Z Sahenk; D Bachman; A Scarpa; R M Scofield; C Reiner
Journal:  Neurology       Date:  1980-08       Impact factor: 9.910

8.  Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.

Authors:  F A Hommes; C K Ho; R A Roesel; M E Coryell; B A Gordon
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

9.  Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

10.  Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria.

Authors:  M D Haust; P D Gatfield; B A Gordon
Journal:  Hum Pathol       Date:  1981-03       Impact factor: 3.466
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  2 in total

1.  A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.

Authors:  L R Gjessing; H A Lunde; T Undrum; H Broch; A Alme; S O Lie
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo.

Authors:  Carolina Maso Viegas; Anelise Miotti Tonin; Angela Zanatta; Bianca Seminotti; Estela Natacha Brandt Busanello; Carolina Gonçalves Fernandes; Alana Pimentel Moura; Guilhian Leipnitz; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2012-07-15       Impact factor: 3.584
  2 in total

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