have been reported by several authors [2,3,6 ]. The Introduction high total serum concentration of carnitine results predominantly from an increase in -carnitine esters, Recombinant human erythropoietin (rhEpo) is widely i.e. acylcarnitine. As a result of the reduction in free used for correction of anaemia in patients with endcarnitine, the ratios of free/total carnitine and free stage renal ...

This is the first reported case of a patient with both non-ketotic hyperglycinemia and propionic acidemia. At 2 years of age, the patient was diagnosed with non-ketotic hyperglycinemia by elevated glycine levels and mutations in the GLDC gene (paternal allele: c.1576_1577insC delT and c.1580delGinsCAA; p.S527Tfs*13, and maternal allele: c.1819G>A; p.G607S). At 8 years of age after having been p...

RESULTS—At the end of the study, there were no differences in body weight, food intake, and energy expenditure between HFD groups with or without a diet supplemented with Ecdy L, except body weight was significantly lower in the Ecdy H group than in the HFD group (P , 0.05). Plasma glucose, insulin levels, and values of the homeostasis model assessment of insulin resistance in the Ecdy H group ...

Inefficientmuscle long-chain fatty acid (LCFA) combustion is associatedwith insulin resistance, butmolecular linksbetween mitochondrial fat catabolism and insulin action remain controversial. We hypothesized that plasma acylcarnitine profiling would identify distinct metabolite patterns reflective of muscle fat catabolism when comparing individuals bearing a missense G304A uncoupling protein 3 ...

Reduced hepatic mitochondrial beta-oxidation and changes in the plasma carnitine pool are important biochemical findings in valproate induced liver toxicity. The carnitine pools in plasma and liver and the liver coenzyme A (CoA) pool in a patient with fatal, valproate induced hepatotoxicity were measured. In plasma and liver the free and total carnitine contents were decreased, whereas the rati...

Carnitine deficiency has been demonstrated in diabetic hearts, and it is also well known that L-carnitine administration has a beneficial effect on cardiac function. Carnitine treatment would be expected to reduce the accumulation of long-chain acylcarnitine. However, many reports have shown that myocardial long-chain acylcarnitine levels were increased following treatment with L-carnitine in w...

We have used radio-high pressure liquid chromatography to study the acyl-CoA ester intermediates and the acylcarnitines formed during mitochondrial fatty acid oxidation. During oxidation of [U-14C]hexadecanoate by normal human fibroblast mitochondria, only the saturated acyl-CoA and acylcarnitine esters can be detected, supporting the concept that the acyl-CoA dehydrogenase step is rate-limitin...

Carnitine acetyltransferase (CRAT) deficiency has previously been shown to result in muscle insulin resistance due to accumulation of long-chain acylcarnitines. However, differences in the acylcarnitine profile and/or changes in gene expression and protein abundance of CRAT in myotubes obtained from obese patients with type 2 diabetes mellitus (T2DM) and glucose-tolerant obese and lean controls...

Case presentation: Female, 4 years old, hospitalized for coughing and reduced level of consciousness. Physical examination revealed tachycardia, no response to stimuli, isochoric photoreactive pupils. Diagnostic hypotheses viral encephalitis myocarditis were raised after laboratory tests did not suggest sepsis. During admission the Intensive Care Unit, skull computed tomography cerebrospinal fl...