Results 151 to 160 of about 470,683 (177)

Early Onset Type of NADH-CoQ Reductase Deficiency

Pediatrics International, 1986
AbstractWe report a case of NADH‐CoQ reductase deficiency, which is the first case described in Japan. A 3‐year‐and‐9‐month‐old‐boy had a severe and progressive neurologic disorder characterized by psychomotor retardation, myoclonic epilepsy and spastic quadriplegia.
Naruji Sugiyama, Yoshiro Wada, Masanori Kobayashi   +2 more
exaly   +2 more sources

Benign Mitochondrial Myopathy With Deficiency of NADH-CoQ Reductase and Cytochrome c Oxidase

Neuropediatrics, 1986
Since birth a female child had been weak and hypotonic. At three months of age, head control was lacking; sucking and crying were poor. Four months later, there were more spontaneous movements and the girl was able to push herself up in prone position. Further motor improvement was noted at the age of 15 months.
I E M Luyt-Houwen, H R Scholte, J J Martin   +2 more
exaly   +4 more sources

Human CoQ₁₀ deficiencies

BioFactors, 2008
AbstractCoenzyme Q10 (CoQ10 or ubiquinone) is a lipid‐soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10 is to transport electrons from complexes I and II to complex III in the respiratory chain which resides in the mitochondrial inner membrane.
C M, Quinzii, L C, López, A, Naini, S, DiMauro, M, Hirano   +4 more
openaire   +2 more sources

Bypassing human CoQ 10 deficiency

Molecular Genetics and Metabolism, 2018
Primary disorders of the human coenzyme Q10 (CoQ10) biosynthesis pathway are a known cause of severe pediatric diseases. So far, oral administration of CoQ10 is the only treatment strategy for affected individuals. However, the real benefit of CoQ10 supplementation remains questionable and clinical studies regarding efficiency are lacking.
Diran, Herebian, Luis C, López, Felix, Distelmaier   +2 more
openaire   +2 more sources

CoQ10 Deficiencies and MNGIE: Two Treatable Mitochondrial Disorders [PDF]

Biochimica Et Biophysica Acta - General Subjects, 2012
Although causative mutations have been identified for numerous mitochondrial disorders, few disease-modifying treatments are available. Two examples of treatable mitochondrial disorders are coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Here, we describe clinical and molecular ...
Michio Hirano, Catarina M Quinzii, Caterina Garone   +2 more
exaly   +4 more sources

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

Journal of the Neurological Sciences, 1979
This paper presents data on two sisters with a mitochondrial myopathy characterised by weakness, marked exercise intolerance and a fluctuating lactic acidaemia. Both patients also experienced episodes of increased weakness which could be brought on by unaccustomed activity, going without food or by taking small quantities of alcohol.
J A, Morgan-Hughes, P, Darveniza, D N, Landon, J M, Land, J B, Clark   +4 more
openaire   +2 more sources

Atypical Form of Menkes Kinky Hair Disease With Mitochondrial NADH-CoQ Reductase Deficiency

Neuropediatrics, 1988
A male infant with an atypical form of Menkes kinky hair disease showed mitochondrial NADH-CoQ reductase (complex I) deficiency in a femoris muscle biopsy. His clinical features consisted of hypotonicity of the upper limbs, hyper-reflexia of the lower extremities, abnormal hair and fine myoclonic movement of the hands.
M Arima, N Sugiyama, I Nonaka
exaly   +3 more sources

31P NMR examination of two patients with NADH-CoQ reductase deficiency

Nature, 1982
Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders1 characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure.
G K, Radda, P J, Bore, D G, Gadian, B D, Ross, P, Styles, D J, Taylor, J, Morgan-Hughes   +6 more
openaire   +2 more sources

Neonatal Liver Failure and Leigh Syndrome Possibly Due to CoQ-Responsive OXPHOS Deficiency

Molecular Genetics and Metabolism, 2003
CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay.
Tally Lerman-Sagie, Esther Leshinsky-Silver, V Barash   +2 more
exaly   +3 more sources

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Journal of inherited metabolic disease, 2014
Primary coenzyme Q₁₀ (CoQ₁₀) deficiencies are associated with mutations in genes encoding enzymes important for its biosynthesis and patients are responsive to CoQ₁₀ supplementation. Early treatment allows better prognosis of the disease and therefore, early diagnosis is desirable.
Buján, Nuria, Arias, Angela, Montero, Raquel, García-Villoria, Judit, Lissens, Willy, Seneca, Sara, Espinos, Carmen, Navas, Placido, De Meirleir, Linda, Artuch, Rafael, Briones, Paz, Ribes, Antonia   +11 more
openaire   +1 more source