Weanling rats were fed a simple riboflavin-deficient diet or the same diet supplemented with galactoflavin. Oxidative phosphorylation was studied in isolated hepatic mitochondria. Throughout the course of the experimental diets, a total of 8 weeks, there were no alterations in the respiratory control ratios or in the ADP/O ratios of the isolated mitochondria. Succinate dehydrogenase activity de...

It has been reported that the mitochondrial cytochromes and citrate cycle enzymes occur in constant proportions to each other and increase or decrease roughly in parallel in response to various stimuli. The purpose of this study was to determine whether this proportionality is an obligatory consequence of the way in which mitochondria are assembled. Severe iron deficiency was used to bring abou...

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders mitochondrial β-oxidation fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present case successful diagnosis and treatment long-chain use 100% m...

Case presentation: J.A.P.N., male, 7 years old, born at full-term, without gestational complications. He presented significant delay in motor development, started crawling 8 months, but never acquired gait. In addition, he palpebral ptosis since birth. evolved throughout his life with a pattern of distal atrophy the upper and lower limbs, addition to recurrent episodes hospitalizations due rhab...

The profile of organic acids in plasma of patients with a deficiency of medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) was determined by gas-liquid chromatography of trimethylsilylated derivatives of the acids isolated by ethyl acetate extraction. All 13 patients had increased concentrations of free octanoate, cis-4-decenoate, and decanoate in their plasma. Cis-4-decenoate, an intermediary m...

In the present paper, we describe a novel method which enables the analysis of tissue acylcarnitines and carnitine biosynthesis intermediates in the same sample. This method was used to investigate the carnitine and fatty acid metabolism in wild-type and LCAD-/- (long-chain acyl-CoA dehydrogenase-deficient) mice. In agreement with previous results in plasma and bile, we found accumulation of th...

Glutaric aciduria type 1 is an autosomal recessive metabolic disorder caused by a deficiency of glutaryi-CoA dehydrogenase. This disorder is characterized by progressive dystonia and dyskinesia. Laboratory evaluation demonstrates excessive levels of glutaric acid urinary excretion as well as absence of demonstrable functional levels of glutaryi-CoA in fibroblast cultures. We present the CT and ...