Primary carnitine deficiency.

摘要: Carnitine deficiency can be defined as a decrease of intracellular carnitine, leading to an accumulation acyl-CoA esters and inhibition acyl-transport via the mitochondrial inner membrane. This may cause disease by following processes. A. Inhibition oxidation long-chain fatty acids during fasting causes heart or liver failure. The latter encephalopathy hypoketonaemia, hypoglycaemia hyperammonaemia. B. Increased inhibit many enzymes carriers. Long-chain affects oxidative phosphorylation at adenine nucleotide carrier, also inhibits other such glutamate dehydrogenase, carnitine acetyltransferase NAD(P) transhydrogenase. C. Accumulation triacylglycerols in organs increases stress susceptibility exaggerated response hormonal stimuli. D. Decreased acetyl-export lowers acetylcholine synthesis nervous system. Primary genetic defect transport biosynthesis carnitine. Until now only defects level have been discovered. most severe form primary is consequence lesion protein brush border membrane renal tubules. cardiomyopathy hepatic usually combination with skeletal myopathy. In patient without myopathy, we found that small intestinal epithelial was inhibited. cured supplementation. Muscle increased, but remained too low. suggests muscle fibroblasts normal, which disagrees literature reports for similar patients.