Results 251 to 260 of about 66,092 (301)

Variable Presentation of Cytochrome c Oxidase Deficiency

Archives of Pediatrics & Adolescent Medicine, 1992
To describe three patients with cytochrome c oxidase deficiency.Patient series.Tertiary care children's hospital in Arkansas.A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency.None.Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and ...
K, Keppler, C, Cunniff
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Cytochrome c oxidase deficiency in leigh syndrome

Annals of Neurology, 1987
AbstractWe studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children with pathologically proven subacute necrotizing encephalomyelopathy (Leigh syndrome). Samples were taken from brain (5 patients), skeletal muscle (4 patients), liver (4 patients), kidney (4 patients), heart (1 patient), and cultured fibroblasts (3 ...
DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D. C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S. D., Johnson P. C.   +10 more
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Cytochrome c oxidase deficiency

American Journal of Medical Genetics, 2001
AbstractCytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain, catalyzing the transfer of electrons from reduced cytochrome c to molecular oxygen. It is composed of 13 structural subunits, three of which are encoded in mtDNA and form the catalytic core of the enzyme.
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Cytochromec oxidase deficiency in infancy

Acta Neuropathologica, 1989
Five children with early onset of muscle weakness, lactic acidosis and deficient cytochrome c oxidase staining in the muscle biopsy were studied. By oximetric assay of the respiratory chain of isolated mitochondria, cytochrome c oxidase deficiency was confirmed in four of the cases, while one case showed only a slight decrease of cytochrome c oxidase ...
A, Oldfors, H, Sommerland, E, Holme, M, Tulinius, B, Kristiansson   +4 more
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Cytochrome‐ c ‐oxidase deficiency in a floppy infant

Neurology, 1982
We report an infant with cytochrome- c -oxidase deficiency whose clinical presentation is identical to that of two previously reported patients, including failure to thrive, respiratory decompensation, acidosis, DeToni-Fanconi-Debre syndrome, and mitochondrial myopathy leading to death.
T D, Heiman-Patterson, E, Bonilla, S, DiMauro, J, Foreman, D L, Schotland   +4 more
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Diffuse leukodystrophy in an infant with cytochrome‐c oxidase deficiency

Journal of Inherited Metabolic Disease, 1998
AbstractA 25‐month‐old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2‐weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect.
J P, Harpey, D, Heron, M, Prudent, C, Charpentier, P, Rustin, G, Ponsot, V, Cormier-Daire   +6 more
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CYTOCHROME C OXIDASE DEFICIENCY IN A CHILD WITH ISOLATED MYOPATHY

Fetal and Pediatric Pathology, 2005
Cytochrome c oxidase (COX) deficiency is the most commonly recognized respiratory chain defect in childhood. The disease is clinically heterogeneous with phenotypes including Leigh syndrome, hepatic failure and myopathies. COX deficiency has been associated with mitochondrial DNA mutations in COX I, II, and III with large-scale deletions of the ...
Ahmet, Karadag, Zekai, Avci, Ferhat, Catal, Ender, Odemis   +3 more
exaly   +3 more sources

Two siblings with cytochromec oxidase deficiency

Journal of Inherited Metabolic Disease, 1983
Le deficit en cytochrome c oxydase est une anomalie rare du systeme de transport mitochondrial. Rappel de 4 cas dans la litterature pour lesquels le deficit est localise aux muscles du squelette. Dans l'article on decrit 2 cas ou le deficit est mis en evidence a la fois sur la biopsie de muscles du squelette, mais aussi au niveau du cerveau et sur ...
S, Miyabayashi, K, Narisawa, K, Tada, K, Sakai, K, Kobayashi, Y, Kobayashi   +5 more
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Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy

Pediatric Neurology, 1992
Electron microscopic cytochemistry was used to evaluate the behavior of cytochrome c oxidase (COX) in cultured skin fibroblasts from 4 patients with decreased COX activity (Leigh encephalopathy, fatal infantile COX deficiency). In patients with Leigh encephalopathy, all mitochondria reacted to COX staining either equivocally or negatively, indicating ...
K, Haginoya, S, Miyabayashi, K, Iinuma, E, Okino, H, Maesaka, K, Tada   +5 more
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Fibroblasts and Cytochrome c Oxidase Deficiency

1989
Adenosine triphosphate (ATP) is the universal cellular energy currency, and is produced primarily by the enzymes of the respiratory chain. These enzymes are integral, multisubunit components of the inner mitochondrial membrane. They are responsible for the coupled oxidation of metabolites and pEosphorylation of ADP (adenosine diphosphate).
D. M. Glerum, B. H. Robinson, R. Capaldi
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