In a Japanese study, primary systemic carnitine deficiency was estimated to occur in 1 per 40,000 births.[3]In Australia, the incidence has been estimated to be between 1:37,000-1:100,000 newborns. The frequency of this condition in adults is not known. However, in the United Kingdom,...
Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlook...
Carnitine/acylcarnitine translocase deficiency (CACT) is caused by a defect in the translocase protein in the inner mitochondrial membrane (see Fig. 4.1) that transports longchain acyl-carnitine into the mitochondrial matrix in exchange for transporting free carnitine out of the mitochon...
Effects of l-Carnitine in Primary Deficiency Concentrations of l-carnitine are below normal in the plasma, liver and muscle of patients with systemic carnitine deficiencies (SCD), and in the muscle of those with the myopathic form, possibly because of impaired transport or biosynthesis of l-carni...
Plasma free carnitine in epilepsy children, adolescents and young adults treated with old and new antiepileptic drugs with or without ketogenic diet This study was performed to evaluate carnitine deficiency in a large series of epilepsy children and adolescents treated with old and new antiepileptic ...
The first case report of carnitine deficiency was in 1973 [697]. In adults, carnitine deficiency is most commonly iatrogenic [703]. Show abstract ESPGHAN/ESPEN/ESPR/CSPEN guidelines on pediatric parenteral nutrition: Lipids 2018, Clinical Nutrition Citation Excerpt : A meta-analysis showed no ...
Carnitine Deficiency Disorders in Children Carnitine-deficient diets (vegetarian) do not have much effect on carnitine pools in adults. A modest 50% reduction in carnitine levels is associated with... CA Stanley - 《Annals of the New York Academy of Sciences》 被引量: 249发表: 2010年 Propionyl...
The definite diagnosis of carnitine deficiency is based on the determination of free- and acylcarnitine levels in serum, urine, and/or tissues. The estimated safe and adequate daily carnitine intake for adults is 150-500 mumol/day whereas pharmacological doses of carnitine are required for the ...
Adults with diabetes have heart disease death rates 2 to 4 times higher than adults without diabetes [2] . Diabetic cardiomyopathy explains much of this survival difference and carnitine deficiency is a cause of cardiomyopathy. Research Design and Methods: Adult subjects (40) with type 1 diabetes...
Carnitine deficiency presents as a major problem in fatty acid oxidation. The use of a plasma carnitine assay can rapidly help to describe this deficiency... L Wan,RW Hubbard - 《Clinical Chemistry》 被引量: 51发表: 1998年 The interaction of pH, tonicity and electrolyte concentration on the...