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A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q

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Abstract

A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.

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Abbreviations

EEG:

electroencephalogram

CT:

computed tomography

CSF:

cerebrospinal fluid

Ap5A:

P′, P5-di(adenosine-5′-)pantaphosphate

BSA:

bovine serum albumin

CPT:

carnitine palmitoyltransferase

SCC:

succinate: cytochrome c oxidoreductase

SQ:

succinate:coenzyme Q oxidoreductase

DCPIP:

2,6-dichlorophenol indophenol

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This investigation is part of the research program Disorders of the Neuromuscular System

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Fischer, J.C., Ruitenbeek, W., Gabreëls, F.J.M. et al. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144, 441–444 (1986). https://doi.org/10.1007/BF00441735

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  • DOI: https://doi.org/10.1007/BF00441735

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