Primary Carnitine Deficiency and Cardiomyopathy.
10.4070/kcj.2013.43.12.785
- Author:
Lijun FU
1
;
Meirong HUANG
;
Shubao CHEN
Author Information
1. Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. chensb@sh163.net
- Publication Type:Review
- Keywords:
Cardiomyopathies;
Carnitine deficiency, primary
- MeSH:
Cardiomyopathies*;
Carnitine*;
Cytosol;
Diagnosis;
Fasting;
Fatty Acids;
Humans;
Mitochondria;
Prognosis
- From:Korean Circulation Journal
2013;43(12):785-792
- CountryRepublic of Korea
- Language:English
-
Abstract:
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent beta-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial beta-oxidation resulting from defective carnitine transport and is one of the rare treatable etiologies of metabolic cardiomyopathies. Patients affected with the disease may present with acute metabolic decompensation during infancy or with severe cardiomyopathy in childhood. Early recognition of the disease and treatment with L-carnitine may be life-saving. In this review article, the pathophysiology, clinical presentation, diagnosis, treatment and prognosis of PCD are discussed, with a focus on cardiac involvements.
