Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study

Document Type : Original Article


1 Department of Pediatric Endocrinology; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan, Iran

2 Department of Pediatric Endocrinology, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan, Iran

3 Department of Pediatric Cardiology, Shahrekord University of Medical Sciences, Shahrekord, Iran

4 Department of Pediatric Endocrinology; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease; Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran


Carnitine membrane transporter deficiency or primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation, in which the transport of carnitine into cells is impaired. Carnitine plays an important role in transporting fatty acids into the mitochondria and carnitine deficiency block oxidation of long-chain fatty acids in the mitochondria that leads to heart and hepatic disease, myopathy, nonketotic hypoglycemia, and neurological complications. PCD has a wide range of symptoms and can reveal itself as symptomatic cardiomyopathy or even asymptomatic. In this study, we reported twin brothers with PCD. One of them had symptoms of disease and cardiomyopathy and was under treatment with carnitine. Another twin was asymptomatic and was diagnosed during follow-up period of his brother.


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