To determine the sensitivity and specificity of detecting urinary medium-chain acylcarnitines for the diagnosis of MCAD deficiency, 114 urine specimens from 75 children with metabolic diseases and controls were analyzed in a blinded fashion using a radioisotopic exchange/HPLC method. All
Clinical and investigative medicine. Medecine clinique et experimentale, 18(2), 144-151 (1995-04-01)
A sensitive method of continuous on-line radio-high performance liquid chromatography (HPLC) was used to detect the specific radio-labelled acyl-carnitine esters derived from the oxidation of [U-14C]3-methyl-2-oxopentanoate by rat liver and muscle mitochondrial fractions. The recoveries of carnitine, acetyl-carnitine, propionyl-carnitine, 2-methylbutyryl-carnitine
Lissencephaly or agyria refers to a rare disorder that is characterized by the absence of cerebral convolutions and a poorly formed sylvian fissure, giving the appearance of a 3-4 months old fetal brain. At present more than 25 dysmorphology syndromes
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 30(5), 383-390 (2012-04-05)
Medium-chain fatty acids and acylcarnitines accumulate in medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most frequent fatty acid oxidation defect clinically characterized by episodic crises with vomiting, seizures and coma. Considering that the pathophysiology of the neurological symptoms observed in MCADD
This paper describes a method for the quantitative determination of free carnitine, acetylcarnitine, propionylcarnitine, hexanoylcarnitine, octanoylcarnitine, and total carnitine in plasma. Carnitine and acylcarnitines were extracted from 100 microliters of plasma with acetonitrile/methanol and isolated using 0.5-ml columns of silica
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