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Journal of the Neurological Sciences 1987-Jan

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

Només els usuaris registrats poden traduir articles
Inicieu sessió / registreu-vos
L'enllaç es desa al porta-retalls
W F Arts
H R Scholte
M C Loonen
H Przyrembel
J Fernandes
J M Trijbels
I E Luyt-Houwen

Paraules clau

Resum

Two new patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy) due to deficiency of cytochrome c oxidase are presented and their data are compared with those of the four Leigh's syndrome patients previously reported with this deficiency. It is not possible to distinguish between the various biochemical aetiologies of Leigh's syndrome on clinical grounds. Investigation of pyruvate metabolism and of the respiratory chain will reveal the enzymatic defect in some of the patients. It has now been firmly established that a relationship exists between Leigh's syndrome and deficiency of cytochrome c oxidase. There are, however, other syndromes which are also associated with a deficiency of this enzyme. In Leigh's syndrome, the enzyme deficiency has been reported in many organ systems and in cultured fibroblasts. In the liver, however, decreased, intermediate or normal values of cytochrome c oxidase activity have been found. Selective or more widespread involvement of organ systems, due to mutations of either the nuclear or the mitochondrial DNA encoding for different subunits of the enzyme molecule (some of which may be organ- or tissue-specific), could explain the clinical and biochemical heterogeneity of syndromes associated with a cytochrome c oxidase deficiency.

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