Search for dissertations about: "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency"

Found 2 swedish dissertations containing the words Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

2. 1. Biochemical and molecular studies of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in cultured human fibroblasts

   Author : Nikolaos Venizelos; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; trifunctional protein; cultured human fibroblasts.;

   Abstract : Inborn defects in mitochondrial B-oxidation of fatty acids are a group of diseases affecting humans usually early in life. At least 15 separate defects affecting the mitochondrial fatty acid B-oxidation in man have been identified . READ MORE

4. 2. Energy metabolism and clinical symptoms in beta-oxidation defects, especially long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency

   Author : Charlotte Bieneck Haglind; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a severe inborn error in the beta-oxidation of long-chain fatty acids. The disease presents during the first years of life. Hypoglycemia, hepatic manifestations, muscle hypotonia and episodes of rhabdomyolysis, cardiomyopathy and even sudden death are common symptoms. READ MORE