This letter, published in the European Journal of Pediatrics, highlights the omission of carnitine deficiency as a cause of cardiomyopathy in children with celiac disease. Carnitine is an essential amino acid that plays a crucial role in transporting fatty acids and providing energy to the heart. ...
The frequency of variants affecting carnitine transport was 2/324 patients with cardiomyopathy (0.61%) not significantly different from frequency of 3/270 (1.11%) in the general population. These results indicate that heterozygosity for primary carnitine deficiency is not more frequent in patients with...
Myocardial carnitine deficiency in hu- man cardiomyopathy. In: de Jong JW, Ferrari R, editors. The carni- tine system. Amsterdam: Kluwer Academic Press; 1995, p. 145- 66.Regitz-Zagrosek V, Fleck E. Myocardial carnitine deficiency in human cardiomyopathy. In: tDe Jong JW, Ferrari R, eds....
Dysfunction of OCTN2 leads to severe plasma and intracellular carnitine deficiency [1]. Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy Despite the occurrence of secondary carnitine deficiency, the clinical significance of monitoring plasma carnitine concentrations and the role of su...
Myocardial ultrastructure revealed abnormal-appearing mitochondria consistent with carnitine deficiency. Serum and myocardial carnitine levels in the animals with diabetes and reduced myocardial function were low. Carnitine levels and metabolism could be important in the pathogenesis of diabetic cardiomyopathy. ...
Heart failure: Patients with primary carnitine deficiency develop a progressive cardiomyopathy that usually presents at a later age. The cardiac function does not respond to inotropes or diuretics. If the condition is not correctly diagnosed and no carnitine is supplemented, progressive heart failure eve...
Adults with primary carnitine deficiency could be asymptomatic or they could have mild symptoms with easy fatigability [16]. While cardiomyopathy is not commonly seen in affected adults, they are still at risk for cardiac arrhythmias and sudden death, even if have been asymptomatic. Affected women...
Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2, which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscular weakness and dilated cardiomyopathy. Two OCTN2-defective huma...
Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. Arch Dis Child. 1987;62:1170-1172.[Abstract]Colin AA, Jaffe M, Shapira Y, Ne'eman Z, Gutman A, et al. (1987) Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. Arch Dis Child 62: 1170-1172. [Cross...
Carnitine deficiency-induced cardiomyopathy The results of clinical and animal studies suggest that a short term period of moderate secondary carnitine deficiency, in and of itself, does not have a m... DJ Paulson - Springer US 被引量: 136发表: 1998年 Carnitine deficiency-induced cardiomyopathy Th...