Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease

1988 ◽  
pp. 189-192
Author(s):  
M. Di Rocco ◽  
E. Veneselli ◽  
M. O. Ciccone ◽  
A. Taccone ◽  
M. Stroppiano ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Leigh's Disease ◽  
Cytochrome C Oxidase Deficiency

Leigh's Encephalomyelopathy in a Patient With Cytochrome c Oxidase Deficiency in Muscle Tissue

PEDIATRICS ◽  
1977 ◽  
Vol 60 (6) ◽  
pp. 850-857 ◽  
Author(s):  
J. L. Willems ◽  
L. A. H. Monnens ◽  
J. M. F. Trijbels ◽  
J. H. Veerkamp ◽  
A. E. F. H. Meyer ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Muscle Tissue ◽  
Oxidase Activity ◽  
Molecular Defect ◽  
Oxidase Deficiency ◽  
Leigh's Disease ◽  
Peripheral Muscle ◽  
Cytochrome C Oxidase Deficiency ◽  
Pyruvate Ratio

A patient is described with subacute necrotizing encephalomyelopathy proven by autopsy. A slight increase of blood pyruvate and lactate levels with an increased lactate/pyruvate ratio and frequently increased β-hydroxybutyrate/acetoacetate ratio suggested a disorder of mitochondrial oxidation. A cytochrome c oxidase deficiency was shown in peripheral muscle tissue with some residual cytochrome c oxidase activity in heart muscle. Normal cytochrome c oxidase activity was present in liver tissue. Because of the markedly higher levels of pyruvate and lactate in CSF compared with blood and an increased lactate/pyruvate ratio in CSF, there may also have been defective activity of cytochrome c oxidase in brain tissue. After a period of apparently normal development, the child's clinical condition gradually deteriorated and she died at age 6 years due to respiratory insufficiency. This study illustrates the fact that Leigh's disease is not linked to a single inherited molecular defect.

scholarly journals The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

2010 ◽  
Vol 1797 ◽  
pp. 52
Author(s):  
Sylwia Łuczak ◽  
Dorota Piekutowska-Abramczuk ◽  
Paweł Kowalski ◽  
Elżbieta Ciara ◽  
Dorota Jurkiewicz ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Clinical Features ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

Cytochrome c oxidase deficiency in menkes kinky hair disease

1983 ◽  
Vol 5 (6) ◽  
pp. 533-540 ◽  
Author(s):  
Mitsuo Maehara ◽  
Nobuaki Ogasawara ◽  
Naoki Mizutani ◽  
Kazuyoshi Watanabe ◽  
Sakae Suzuki
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Kinky Hair Disease ◽  
Menkes Kinky Hair Disease ◽  
Kinky Hair

Successful treatment of heart failure with enoximone in a patient with cytochrome c oxidase deficiency

1996 ◽  
Vol 155 (6) ◽  
pp. 525-525 ◽  
Author(s):  
A. Timnik ◽  
S. Mühlbauer ◽  
A. Merkenschlager ◽  
K. Reiter ◽  
W. Lindner ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Successful Treatment ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency

scholarly journals Cytochrome c Oxidase Deficiency in Human Posterior Cricoarytenoid Muscle

2011 ◽  
Vol 25 (4) ◽  
pp. 387-394 ◽  
Author(s):  
Cari M. Tellis ◽  
Clark Rosen ◽  
John M. Close ◽  
Michael Horton ◽  
J. Scott Yaruss ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency ◽  
Posterior Cricoarytenoid Muscle ◽  
Posterior Cricoarytenoid

scholarly journals OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

2010 ◽  
Vol 19 (15) ◽  
pp. 3043-3052 ◽  
Author(s):  
Patrick Yu-Wai-Man ◽  
Kamil S. Sitarz ◽  
David C. Samuels ◽  
Philip G. Griffiths ◽  
Amy K. Reeve ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Cytochrome C Oxidase ◽  
Wild Type ◽  
Oxidase Deficiency ◽  
Cytochrome C Oxidase Deficiency
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