The paper analyzes the recent literature on cardiomyopathies developing in inborn errors of metabolism. It considers cardiomyopathies as a severe manifestation of primary carnitine deficiency, fatty acid transport and β-oxidation defects, organic acidemias, and lysosomal diseases (including Pompe disease, Danon disease, etc.). Attention is given to diagnostic criteria for the above diseases and to the possibilities of treatment
Several clinical entities are associated with disorders of fatty acid oxidation or transfer across t...
Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiom...
Carnitine is required for entry of long chain fatty acids into mitochondria where βoxidation occurs....
Abstract. Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well ...
AIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a d...
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherit...
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherit...
Carnitine deficiency syndromes manifested as metabolic encephalopathy, lipid storage myopathy, or ca...
Inherited metabolic diseases account for 15–20% of all cases of pediatric cardiomyopathy, with a hig...
AIM: The aim of this case report was to show the importance to research metabolic etiology, especial...
Aim To estimate the eYciency of metabolic screening in children’s cardiomyopathy. Methods and Result...
Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary...
Fat is the primary energy source for heart muscle. In the heart, carnitine is essential for normal f...
Data on the etiology of dilated cardiomyopathy in children (post myocarditis, metabolic, associated ...
Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves throug...
Several clinical entities are associated with disorders of fatty acid oxidation or transfer across t...
Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiom...
Carnitine is required for entry of long chain fatty acids into mitochondria where βoxidation occurs....
Abstract. Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well ...
AIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a d...
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherit...
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherit...
Carnitine deficiency syndromes manifested as metabolic encephalopathy, lipid storage myopathy, or ca...
Inherited metabolic diseases account for 15–20% of all cases of pediatric cardiomyopathy, with a hig...
AIM: The aim of this case report was to show the importance to research metabolic etiology, especial...
Aim To estimate the eYciency of metabolic screening in children’s cardiomyopathy. Methods and Result...
Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary...
Fat is the primary energy source for heart muscle. In the heart, carnitine is essential for normal f...
Data on the etiology of dilated cardiomyopathy in children (post myocarditis, metabolic, associated ...
Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves throug...
Several clinical entities are associated with disorders of fatty acid oxidation or transfer across t...
Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiom...
Carnitine is required for entry of long chain fatty acids into mitochondria where βoxidation occurs....