title: A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.
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 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.
mesh_terms: D000138:Acidosis / Q000150:complications; D000255:Adenosine Triphosphate / Q000378:metabolism; D001927:Brain Diseases / Q000201:enzymology*; D004827:Epilepsy / Q000150:complications; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications; D007773:Lactates / Q000378:metabolism; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009128:Muscle Spasticity / Q000150:complications / Q000201:enzymology*; D009207:Myoclonus / Q000150:complications; D009243:NAD / Q000378:metabolism; D009759:Nystagmus, Pathologic / Q000150:complications; D010084:Oxidation-Reduction; D011773:Pyruvates / Q000378:metabolism; D014451:Ubiquinone / Q000378:metabolism*
chemical_list: D007773:Lactates; D011773:Pyruvates; D009243:NAD; D014451:Ubiquinone; D000255:Adenosine Triphosphate